682 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    176
    1. shannon_mcnulty 18 Mar 2021
      While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 13.96 foci/cell

      AssayResultAssertion: Abnormal

      Range: 0 - 69

      Comment: Exact values reported in "Source Data" file

      CGType:FunctionalAssayResult FuncAssay:4 Variant:54 CAID:CA279530867
    2. shannon_mcnulty 18 Mar 2021
      While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 3.19 foci/cell

      AssayResultAssertion: abnormal

      Range: 0 - 32

      Comment: Exact values reported in "Source Data" file

      CGType:FunctionalAssayResult FuncAssay:4 Variant:42 CAID:CA195974
    3. shannon_mcnulty 18 Mar 2021
      While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.

      AssayResult: 1.24 foci/cell

      AssayResultAssertion: Abnormal

      Range: 0 - 25

      Comment: Exact values reported in "Source Data" file

      CGType:FunctionalAssayResult FuncAssay:4 Variant:34 CAID:CA395121845
    4. shannon_mcnulty 18 Mar 2021
      Following exposure to IR, the average number of RAD51 foci was scored in cyclin-A- and YFP-PALB2-expressing S-phase cells

      AssayResult: 24.90 foci/cell

      AssayResultAssertion: Normal

      Range: 1 - 90

      ControlType: Normal; wild type PALB2 cDNA

      Comment: Exact values reported in "Source Data" file

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    5. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 128.59

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.72

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:49 CAID:CA299747 ClinVarID:182773
    6. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 19.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 5

      StandardErrorMean: 4.42

      ControlType: Abnormal; empty vector

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 AssayControl:Abnormal
    7. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 6

      StandardErrorMean: 0

      ControlType: Normal; wild type PALB2 cDNA

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    8. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.05

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:65 CAID:CA161315 ClinVarID:126758
    9. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.73

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.41

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:63 CAID:CA163622 ClinVarID:126749 ValidationControl:Benign
    10. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 19.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.56

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
    11. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 119.03

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.12

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:48 CAID:CA395141224
    12. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 37.28

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.28

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:46 CAID:CA279530867 ClinVarID:922719
    13. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 111.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.63

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:40 CAID:CA16620118 ClinVarID:420826
    14. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 80.44

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:38 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
    15. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 27.29

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.53

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:34 CAID:CA195974 ClinVarID:186824
    16. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 12.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:30 CAID:CA151239 ClinVarID:126683
    17. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 112.08

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:28 CAID:CA196017 ClinVarID:186840
    18. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.4

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.88

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:24 CAID:CA269551 ClinVarID:126670
    19. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100.97

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.27

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:20 CAID:CA395125757 ClinVarID:530038
    20. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 20.08

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.84

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    21. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 89.72

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.95

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:7 CAID:CA395139401
    22. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 93.33

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:5 CAID:CA151222 ClinVarID:126594
    23. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 83.16

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.2

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:4 CAID:CA288386 ClinVarID:126590
    24. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 26.03

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.42

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:3 Variant:2 CAID:CA279502031 ClinVarID:657328
    25. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 24.27

      AssayResultAssertion: Abnormal

      ReplicateCount: Not reported

      StandardErrorMean: Not reported

      Comment: Exact values reported in “Supplementary Data 1” file; result for this variant not reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:41 CAID:CA923726356
    26. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 96.22

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.7

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:57 CAID:CA167348 ClinVarID:142079
    27. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 15.23

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 6.42

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as Q899X.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
    28. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 52.23

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.33

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as I1037R.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:43 CAID:CA395142764 ClinVarID:484219
    29. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 74.36

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.89

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:21 CAID:CA494163316 ValidationControl:Benign
    30. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.27

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.3

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:49 CAID:CA299747 ClinVarID:182773
    31. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.29

      AssayResultAssertion: Abnormal

      ReplicateCount: 3

      StandardErrorMean: 6.81

      ControlType: Abnormal; empty vector (set 5)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 AssayControl:Abnormal
    32. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.86

      AssayResultAssertion: Abnormal

      ReplicateCount: 3

      StandardErrorMean: 2.39

      ControlType: Abnormal; empty vector (set 4)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 AssayControl:Abnormal
    33. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 34.03

      AssayResultAssertion: Abnormal

      ReplicateCount: 3

      StandardErrorMean: 10.86

      ControlType: Abnormal; empty vector (set 3)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 AssayControl:Abnormal
    34. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 12.78

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.65

      ControlType: Abnormal; empty vector (set 2)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 AssayControl:Abnormal
    35. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.93

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.78

      ControlType: Abnormal; empty vector (set 1)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 AssayControl:Abnormal
    36. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 38

      StandardErrorMean: 0

      ControlType: Normal; wild type

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    37. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.22

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.29

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:70 CAID:CA395139673 ClinVarID:567901
    38. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 21.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.42

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:69 CAID:CA269654 ClinVarID:126774
    39. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 55.4

      AssayResultAssertion: Not reported

      ReplicateCount: 4

      StandardErrorMean: 13.29

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:68 CAID:CA10580054 ClinVarID:230588
    40. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:67 CAID:CA299784 ClinVarID:182786 ValidationControl:Pathogenic
    41. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.7

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 12.82

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:66 CAID:CA161333 ClinVarID:126761 ValidationControl:Benign
    42. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.47

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.99

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:65 CAID:CA161315 ClinVarID:126758
    43. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 13.87

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:64 CAID:CA658658444 ClinVarID:461007 ValidationControl:Pathogenic
    44. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 93.44

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 2.24

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:63 CAID:CA163622 ClinVarID:126749 ValidationControl:Benign
    45. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 9.67

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.31

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
    46. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 109.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.27

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:61 CAID:CA395137656
    47. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 98.64

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.5

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:60 CAID:CA269625 ClinVarID:126747
    48. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.88

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.71

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:59 CAID:CA196291 ClinVarID:186939
    49. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 16.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 4.35

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:58 CAID:CA395137855 ClinVarID:484186
    50. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 103.21

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.98

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:56 CAID:CA395137985
    51. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 108.27

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 16.12

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:55 CAID:CA279524947 ClinVarID:460996
    52. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 98.43

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.96

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:54 CAID:CA288478 ClinVarID:126740
    53. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.57

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 11.51

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:53 CAID:CA192169 ClinVarID:185518
    54. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 103.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.67

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:52 CAID:CA331796 ClinVarID:126738
    55. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:51 CAID:CA350039 ClinVarID:219647
    56. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 56.67

      AssayResultAssertion: Not reported

      ReplicateCount: 4

      StandardErrorMean: 12.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:50 CAID:CA339433 ClinVarID:216752
    57. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 85.13

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 15.04

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:48 CAID:CA395141224
    58. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 108.56

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.59

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:47 CAID:CA395141313
    59. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.42

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.01

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:46 CAID:CA279530867 ClinVarID:922719
    60. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 99.69

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:45 CAID:CA395141474
    61. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 12.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:44 CAID:CA251004 ClinVarID:126711 ValidationControl:Pathogenic
    62. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 14.79

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:42 CAID:CA10579934 ClinVarID:232977
    63. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 1.42

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:40 CAID:CA16620118 ClinVarID:420826
    64. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 25.09

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.48

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:39 CAID:CA294562 ClinVarID:126706 ValidationControl:Pathogenic
    65. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.37

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 5.14

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:38 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
    66. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 12.77

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.34

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:36 CAID:CA395144208
    67. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 78.91

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.86

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:35 CAID:CA210470 ClinVarID:128136
    68. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 8.41

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.95

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:34 CAID:CA195974 ClinVarID:186824
    69. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 24.31

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.23

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:33 CAID:CA7963465 ClinVarID:241553
    70. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 14.78

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 9.34

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:32 CAID:CA197176 ClinVarID:187262
    71. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 81.17

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:31 CAID:CA395144862
    72. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.11

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 17.74

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:30 CAID:CA151239 ClinVarID:126683
    73. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 26.39

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.11

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:29 CAID:CA395144928 ClinVarID:484164
    74. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 19.94

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:28 CAID:CA196017 ClinVarID:186840
    75. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.26

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 4.22

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:27 CAID:CA395145110
    76. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.73

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.25

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:26 CAID:CA395121845
    77. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 29.04

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:25 CAID:CA299663 ClinVarID:182741 ValidationControl:Pathogenic
    78. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 115.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:24 CAID:CA269551 ClinVarID:126670
    79. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 78.3

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:23 CAID:CA395122261
    80. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.96

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:22 CAID:CA151233 ClinVarID:126669 ValidationControl:Benign
    81. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.96

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.31

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:20 CAID:CA395125757 ClinVarID:530038
    82. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 78.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.31

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:19 CAID:CA10579985 ClinVarID:229718
    83. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 103.53

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 7.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:18 CAID:CA151230 ClinVarID:126630 ValidationControl:Benign
    84. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 19.46

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:17 CAID:CA161342 ClinVarID:134994 ValidationControl:Pathogenic
    85. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 64.92

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 8.7

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:16 CAID:CA7963653
    86. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.06

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 2.4

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:15 CAID:CA151229 ClinVarID:126623 ValidationControl:Pathogenic
    87. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 117.58

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 0.81

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:14 CAID:CA161327 ClinVarID:126613 ValidationControl:Benign
    88. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 0.32

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    89. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 23.96

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 7.6

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:12 CAID:CA250432 ClinVarID:126609 ValidationControl:Pathogenic
    90. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 120.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 11.09

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:11 CAID:CA163908 ClinVarID:126607
    91. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 74.18

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 6.49

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:10 CAID:CA185966 ClinVarID:182790 ValidationControl:Benign
    92. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.74

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 14.87

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:9 CAID:CA269492 ClinVarID:126600
    93. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 83.96

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 9.89

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:8 CAID:CA288398 ClinVarID:126595
    94. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.84

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 20.56

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:7 CAID:CA395139401
    95. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.43

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 5.19

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
    96. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 108.51

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 17.71

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:5 CAID:CA151222 ClinVarID:126594
    97. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 67.82

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 10.97

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:4 CAID:CA288386 ClinVarID:126590
    98. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 72.7

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardErrorMean: 9.73

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:3 CAID:CA294407 ClinVarID:142468
    99. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 9.68

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 3.44

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:2 CAID:CA279502031 ClinVarID:657328
    100. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 115.71

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardErrorMean: 3.09

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:1 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
    101. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 80.95

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.01

      StandardErrorMean: 0

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:57 CAID:CA167348 ClinVarID:142079
    102. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 101.02

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.45

      StandardErrorMean: 3.86

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as T1064C.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:49 CAID:CA299747 ClinVarID:182773
    103. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.43

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.77

      StandardErrorMean: 1.96

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as L855P (based on matching values reported in the “Supplementary Data 1” file to values reported in the “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:21 CAID:CA494163316 ValidationControl:Benign
    104. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 15.58

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 0.52

      StandardErrorMean: 0.37

      ControlType: Abnormal; empty vector (set 5)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    105. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.93

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 0.56

      StandardErrorMean: 0.39

      ControlType: Abnormal; empty vector (set 4)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    106. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 8.71

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 1.75

      StandardErrorMean: 1.24

      ControlType: Abnormal; empty vector (set 3)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    107. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.11

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 2.37

      StandardErrorMean: 1.68

      ControlType: Abnormal; empty vector (set 2)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    108. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.83

      AssayResultAssertion: Abnormal

      ReplicateCount: 6

      StandardDeviation: 1.13

      StandardErrorMean: 0.8

      ControlType: Abnormal; empty vector (set 1)

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 AssayControl:Abnormal
    109. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 38

      StandardDeviation: 0

      StandardErrorMean: 0

      ControlType: Normal; wild type PALB2 cDNA

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    110. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.16

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 1.32

      StandardErrorMean: 0.93

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:70 CAID:CA395139673 ClinVarID:567901
    111. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 30.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.64

      StandardErrorMean: 2.57

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:69 CAID:CA269654 ClinVarID:126774
    112. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 20.32

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.49

      StandardErrorMean: 0.35

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:68 CAID:CA10580054 ClinVarID:230588
    113. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.42

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.87

      StandardErrorMean: 2.03

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:67 CAID:CA299784 ClinVarID:182786 ValidationControl:Pathogenic
    114. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.47

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 8.63

      StandardErrorMean: 6.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:66 CAID:CA161333 ClinVarID:126761 ValidationControl:Benign
    115. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100.19

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.64

      StandardErrorMean: 3.99

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:65 CAID:CA161315 ClinVarID:126758
    116. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.53

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.79

      StandardErrorMean: 1.97

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:64 CAID:CA658658444 ClinVarID:461007 ValidationControl:Pathogenic
    117. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 90.64

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 1.82

      StandardErrorMean: 1.29

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:63 CAID:CA163622 ClinVarID:126749 ValidationControl:Benign
    118. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.37

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.36

      StandardErrorMean: 0.26

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:62 CAID:CA151250 ClinVarID:1245 ValidationControl:Pathogenic
    119. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 70.86

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 17.18

      StandardErrorMean: 12.15

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:61 CAID:CA395137656
    120. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 81.81

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 7.45

      StandardErrorMean: 5.27

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:60 CAID:CA269625 ClinVarID:126747
    121. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 90.54

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 10.24

      StandardErrorMean: 7.24

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:59 CAID:CA196291 ClinVarID:186939
    122. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 13.45

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.2

      StandardErrorMean: 1.55

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:58 CAID:CA395137855 ClinVarID:484186
    123. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 92.2

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 19.94

      StandardErrorMean: 14.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:56 CAID:CA395137985
    124. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 90.79

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 6.38

      StandardErrorMean: 4.51

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:55 CAID:CA279524947 ClinVarID:460996
    125. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 69.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.94

      StandardErrorMean: 4.2

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:54 CAID:CA288478 ClinVarID:126740
    126. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 75.85

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.78

      StandardErrorMean: 3.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:53 CAID:CA192169 ClinVarID:185518
    127. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 94.33

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.99

      StandardErrorMean: 7.07

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:52 CAID:CA331796 ClinVarID:126738
    128. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 102.58

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.19

      StandardErrorMean: 1.55

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:51 CAID:CA350039 ClinVarID:219647
    129. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 21.79

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.84

      StandardErrorMean: 1.3

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:50 CAID:CA339433 ClinVarID:216752
    130. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.86

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 1.62

      StandardErrorMean: 1.15

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:48 CAID:CA395141224
    131. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.21

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 7.32

      StandardErrorMean: 5.18

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:47 CAID:CA395141313
    132. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.59

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.6

      StandardErrorMean: 0.43

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:46 CAID:CA279530867 ClinVarID:922719
    133. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 76.97

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 3.1

      StandardErrorMean: 2.19

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:45 CAID:CA395141474
    134. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.92

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.32

      StandardErrorMean: 0.94

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:44 CAID:CA251004 ClinVarID:126711 ValidationControl:Pathogenic
    135. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 38.85

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.05

      StandardErrorMean: 2.15

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:43 CAID:CA395142764 ClinVarID:484219
    136. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 16.89

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.12

      StandardErrorMean: 2.21

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:42 CAID:CA10579934 ClinVarID:232977
    137. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.62

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.76

      StandardErrorMean: 1.25

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:41 CAID:CA923726356
    138. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 17.62

      StandardErrorMean: 12.46

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:40 CAID:CA16620118 ClinVarID:420826
    139. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.16

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.27

      StandardErrorMean: 0.9

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:39 CAID:CA294562 ClinVarID:126706 ValidationControl:Pathogenic
    140. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.16

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardDeviation: 16.94

      StandardErrorMean: 9.78

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:38 CAID:CA151242 ClinVarID:126699 ValidationControl:Benign
    141. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.08

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.54

      StandardErrorMean: 0.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
    142. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 14.01

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.53

      StandardErrorMean: 0.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:36 CAID:CA395144208
    143. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 74.49

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.29

      StandardErrorMean: 1.62

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:35 CAID:CA210470 ClinVarID:128136
    144. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.53

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.29

      StandardErrorMean: 0.21

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:34 CAID:CA195974 ClinVarID:186824
    145. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 30.27

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.04

      StandardErrorMean: 0.74

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:33 CAID:CA7963465 ClinVarID:241553
    146. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.63

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.51

      StandardErrorMean: 0.36

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:32 CAID:CA197176 ClinVarID:187262
    147. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 63.4

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.92

      StandardErrorMean: 4.18

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:31 CAID:CA395144862
    148. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 60.28

      AssayResultAssertion: Not reported

      ReplicateCount: 3

      StandardDeviation: 0.14

      StandardErrorMean: 0.1

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:30 CAID:CA151239 ClinVarID:126683
    149. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 17.35

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 6.21

      StandardErrorMean: 4.39

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:29 CAID:CA395144928 ClinVarID:484164
    150. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 106.23

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 14.57

      StandardErrorMean: 10.3

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:28 CAID:CA196017 ClinVarID:186840
    151. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 75.71

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 22.31

      StandardErrorMean: 15.77

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:27 CAID:CA395145110
    152. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.66

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.28

      StandardErrorMean: 0.2

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:26 CAID:CA395121845
    153. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 6.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.11

      StandardErrorMean: 1.49

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:25 CAID:CA299663 ClinVarID:182741 ValidationControl:Pathogenic
    154. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 84.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.47

      StandardErrorMean: 1.75

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:24 CAID:CA269551 ClinVarID:126670
    155. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 100.07

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 6.18

      StandardErrorMean: 4.37

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:23 CAID:CA395122261
    156. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 91.6

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 8.2

      StandardErrorMean: 5.8

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:22 CAID:CA151233 ClinVarID:126669 ValidationControl:Benign
    157. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 82.83

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.82

      StandardErrorMean: 3.41

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:20 CAID:CA395125757 ClinVarID:530038
    158. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 87.35

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 11.94

      StandardErrorMean: 8.44

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:19 CAID:CA10579985 ClinVarID:229718
    159. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 83.25

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.27

      StandardErrorMean: 3.73

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:18 CAID:CA151230 ClinVarID:126630 ValidationControl:Benign
    160. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.03

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.68

      StandardErrorMean: 1.9

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:17 CAID:CA161342 ClinVarID:134994 ValidationControl:Pathogenic
    161. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 77.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 6.2

      StandardErrorMean: 4.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:16 CAID:CA7963653
    162. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 9.92

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.93

      StandardErrorMean: 1.37

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:15 CAID:CA151229 ClinVarID:126623 ValidationControl:Pathogenic
    163. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 95.02

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.08

      StandardErrorMean: 0.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:14 CAID:CA161327 ClinVarID:126613 ValidationControl:Benign
    164. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 10.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.22

      StandardErrorMean: 2.28

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:13 CAID:CA251717 ClinVarID:1243 ValidationControl:Pathogenic
    165. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.75

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.59

      StandardErrorMean: 1.83

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:12 CAID:CA250432 ClinVarID:126609 ValidationControl:Pathogenic
    166. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 75.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.03

      StandardErrorMean: 2.85

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:11 CAID:CA163908 ClinVarID:126607
    167. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 98.55

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.74

      StandardErrorMean: 4.06

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:10 CAID:CA185966 ClinVarID:182790 ValidationControl:Benign
    168. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 62.31

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 11.49

      StandardErrorMean: 8.13

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:9 CAID:CA269492 ClinVarID:126600
    169. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 66.19

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 21.26

      StandardErrorMean: 15.03

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:8 CAID:CA288398 ClinVarID:126595
    170. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 105.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.45

      StandardErrorMean: 6.68

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:7 CAID:CA395139401
    171. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.82

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.31

      StandardErrorMean: 1.64

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:6 CAID:CA16621924 ClinVarID:546043 ValidationControl:Pathogenic
    172. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 92.32

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.26

      StandardErrorMean: 1.6

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:5 CAID:CA151222 ClinVarID:126594
    173. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 44.9

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.75

      StandardErrorMean: 6.89

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:4 CAID:CA288386 ClinVarID:126590
    174. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 97.61

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.97

      StandardErrorMean: 0.68

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:3 CAID:CA294407 ClinVarID:142468
    175. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 11.28

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.24

      StandardErrorMean: 0.87

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:2 CAID:CA279502031 ClinVarID:657328
    176. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 86.67

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.24

      StandardErrorMean: 1.58

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:1 CAID:CA151212 ClinVarID:126582 ValidationControl:Benign
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6876638/
  3. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    24
    1. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 100

      AssayResultAssertion: Normal

      ReplicateCount: 471

      StandardErrorMean: 3.7

      ControlType: Normal; wild type

      Comment: This variant (wildtype) had normal function. All other variant parameters were normalized to the values of wildtype. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    2. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 59.3

      AssayResultAssertion: Indeterminate

      ReplicateCount: 30

      StandardErrorMean: 8.3

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:77 CAID:CA019516 ClinVarID:201546
    3. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 28.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 13

      StandardErrorMean: 8.6

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:76 CAID:CA064645 ClinVarID:518750
    4. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 45.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 31

      StandardErrorMean: 5.1

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1).

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:71 CAID:CA352142022
    5. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 37.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 26

      StandardErrorMean: 3.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:70 CAID:CA018943 ClinVarID:67960
    6. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 23.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 33

      StandardErrorMean: 3.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:69 CAID:CA018904 ClinVarID:67957
    7. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 89.5

      AssayResultAssertion: Normal

      ReplicateCount: 29

      StandardErrorMean: 14.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:68 CAID:CA018863 ClinVarID:67952
    8. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 18

      StandardErrorMean: 0.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:67 CAID:CA018848 ClinVarID:67951
    9. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 1.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:66 CAID:CA018812 ClinVarID:201523
    10. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 14.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 27

      StandardErrorMean: 2.5

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:64 CAID:CA018747 ClinVarID:67940
    11. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 78.9

      AssayResultAssertion: Normal

      ReplicateCount: 38

      StandardErrorMean: 7.2

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:62 CAID:CA018516 ClinVarID:67920
    12. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 43.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 12.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:61 CAID:CA018503 ClinVarID:67918
    13. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 59.7

      AssayResultAssertion: Indeterminate

      ReplicateCount: 41

      StandardErrorMean: 6.3

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:60 CAID:CA352145324
    14. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 10.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 3.4

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:59 CAID:CA018163 ClinVarID:67884
    15. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 24

      StandardErrorMean: 0.3

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:57 CAID:CA018079 ClinVarID:67876
    16. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 11

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:56 CAID:CA018048 ClinVarID:67874
    17. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 1.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:55 CAID:CA018042 ClinVarID:67873
    18. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 32.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 10

      StandardErrorMean: 6.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:54 CAID:CA017969 ClinVarID:67869
    19. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 36

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 6

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:52 CAID:CA017946 ClinVarID:67866
    20. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 13.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 2.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:53 CAID:CA017955 ClinVarID:67867
    21. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 29

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:51 CAID:CA017913 ClinVarID:67864
    22. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 25

      StandardErrorMean: 0.2

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:50 CAID:CA352146767
    23. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 102.6

      AssayResultAssertion: Normal

      ReplicateCount: 31

      StandardErrorMean: 16.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:47 CAID:CA017837 ClinVarID:67857
    24. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 0.7

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:46 CAID:CA017808 ClinVarID:67854
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    cell.com/ajhg/fulltext/S0002-9297(20)30162-2