20 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
    10
    1. ClingenBaseline 25 Oct 2026

      Supplementary Data Table S3

      Case: 140

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 24 Oct 2026

      Supplementary Data Table S3

      Case: 216

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    3. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 288

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      MultipleGeneVariants:

      (1) LMNA Variant

      Variant: NM_170707.4(LMNA):c.357C>T (p.Arg119=)

      ClinVar: 48062 https://www.ncbi.nlm.nih.gov/clinvar/variation/48062/

      gnomAD: 0.01294, https://gnomad.broadinstitute.org/variant/1-156100408-C-T

      (2) PLB1 Variant

      Variant: NM_153021.4:c.3505G>A (p.Ala1169Thr)

      CAID: CA1588622 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA1588622

      gnomAD: 0.00004643, https://gnomad.broadinstitute.org/variant/2-28843823-G-A

      (3) PSEN1 Variant

      Variant: NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)

      ClinVar: 98094 https://www.ncbi.nlm.nih.gov/clinvar/variation/98094/

      gnomAD: 0.03394, https://gnomad.broadinstitute.org/variant/14-73673178-A-G

      (4) RMB20 Variant

      Variant: NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)

      ClinVar: 43995 https://www.ncbi.nlm.nih.gov/clinvar/variation/43995/

      gnomAD: 0.02090, https://gnomad.broadinstitute.org/variant/10-112581039-G-A

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:30041 inferred_gene_source:CAID Cardiomyopathy Annotation
    4. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 145

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      MultipleGeneVariants:

      (1) DSP Variant

      Variant: NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)

      ClinVar: 180324 https://www.ncbi.nlm.nih.gov/clinvar/variation/180324/

      gnomAD: 0.00007743, https://gnomad.broadinstitute.org/variant/6-7575660-G-A

      (2) DSP Variant

      Variant: NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)

      ClinVar: 44929 https://www.ncbi.nlm.nih.gov/clinvar/variation/44929/

      gnomAD: 0.02491, https://gnomad.broadinstitute.org/variant/6-7582993-A-T

      (3) SCN5A Variant

      Variant: NM_000335.4:c.496G>A (p.Ala166Thr)

      CAID: CA064027 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA064027

      gnomAD: 0.001120, https://gnomad.broadinstitute.org/variant/3-38662449-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 inferred_gene_hgnc:10593 inferred_gene_source:CAID Cardiomyopathy Annotation
    5. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 201

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      MultipleGeneVariants:

      (1) ABCC9 Variant

      Variant: NM_005691.3:c.1306G>A (p.Ala436Thr)

      CAID: CA6481694 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6481694

      gnomAD: 0.0001608, https://gnomad.broadinstitute.org/variant/12-22063105-C-T

      (2) DSP Variant

      Variant: NM_004415.2:c.4558A>G (p.Ser1520Gly)

      CAID: CA041928 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA041928

      gnomAD: 0.00009241, https://gnomad.broadinstitute.org/variant/6-7580981-A-G

      (3) MYBPC3 Variant

      Variant: NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)

      ClinVar: 42813 https://www.ncbi.nlm.nih.gov/clinvar/variation/42813/

      gnomAD: 0.01364, https://gnomad.broadinstitute.org/variant/11-47367871-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:60 inferred_gene_source:CAID Cardiomyopathy Annotation
    6. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 22

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant 1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091, https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.000007070, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant 2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977, https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.002253, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion ClinVarID:14091 ClinVarID:42977 PreviousTesting:Additional Mutation:Germline SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    7. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 276

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      MultipleGeneVariants:

      (1) LAMA4 Variant

      Variant: NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)

      ClinVar: 44374 https://www.ncbi.nlm.nih.gov/clinvar/variation/44374/

      gnomAD: 0.02400, https://gnomad.broadinstitute.org/variant/6-112460365-C-T

      (2) NEBL Variant

      Variant: NM_006393.2(NEBL):c.109_110del (p.Leu37fs)

      ClinVar: 229042 https://www.ncbi.nlm.nih.gov/clinvar/variation/229042/

      gnomAD: 0.001673, https://gnomad.broadinstitute.org/variant/10-21185929-TAA-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    8. ClingenBaseline 22 Oct 2026

      Supplementary Data Table S3

      Case: 157

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      MultipleGeneVariants:

      (1) SDHA Variant

      Variant: NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)

      ClinVar: 224949 https://www.ncbi.nlm.nih.gov/clinvar/variation/224949/

      gnomAD: 0.5249, https://gnomad.broadinstitute.org/variant/5-254599-A-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    9. ClingenBaseline 22 Oct 2026

      Supplementary Data Table S3

      Case: 131

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      MultipleGeneVariants:

      (1) GLA Variant

      Variant: NM_000169.2(GLA):c.427G>A (p.Ala143Thr)

      ClinVar: 10748 https://www.ncbi.nlm.nih.gov/clinvar/variation/10748/

      gnomAD: 0.0009486, https://gnomad.broadinstitute.org/variant/X-100656740-C-T

      (2) SCN5A Variant

      Variant: NM_001099404.1:c.3440C>A (p.Thr1147Asn)

      ClinVar: CA061831 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA061831

      gnomAD: 0.0001446, https://gnomad.broadinstitute.org/variant/3-38618223-G-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:10593 inferred_gene_source:CAID Cardiomyopathy Annotation
    10. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 145

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      MultipleGeneVariants:

      (1) SDHA Variant

      Variant: NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)

      ClinVar: 224949 https://www.ncbi.nlm.nih.gov/clinvar/variation/224949/

      gnomAD: 0.5249, https://gnomad.broadinstitute.org/variant/5-254599-A-T

      (2) TMPO Variant

      Variant: NM_001032283.2(TMPO):c.859G>C (p.Ala287Pro)

      ClinVar: 43693 https://www.ncbi.nlm.nih.gov/clinvar/variation/43693/

      gnomAD: 0.04732, https://gnomad.broadinstitute.org/variant/12-98938295-G-C

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/
  3. www.sciencedirect.com www.sciencedirect.com
    Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy
    1
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    sciencedirect.com/science/article/pii/S0002914916311092
  4. www.sciencedirect.com www.sciencedirect.com
    Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories
    1
    1. ClingenBaseline 23 Oct 2026

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      VariantPreviousTesting: ACTC1, ACTN2, CSRP3, LAMP2, MYBPC3, MYH7, NEXN, PLN, TNNC1, TNNI3, TNNT2, TPM1, CAV3, GLA, MYL2, MYL3, MYOZ2, PRKAG2, and TTR were all tested via NGS.

      VariantGenotypingMethod: Next-generation sequencing panels were used to sequence and read the genetic information of the 760 HCM probands for variants within exons and in +/- 10 nucleotides within the flanking introns of the genes provided above. These variants were then interpreted and filtered for pathogenicity.

      VariantAddInfo: Seen in one HCM proband

      Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVarID: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, http://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant DiseaseEntity:HCM SupplementalData ClinVarID:14091 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S152515781830357X
  5. www.mdpi.com www.mdpi.com
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    1
    1. ClingenBaseline 23 Oct 2026

      Table 5

      Case LO13: Italian

      DiseaseAssertion: HCM (late-onset)

      FamilyInfo: positive family history

      CasePreviousTesting: echocardiography, Full testing (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1), additional testing: (GLA, LAMP2, PRKAG2, TNNC1, MYH6, CSPR3, PLN, TCAP, CAV3), electrocardiography

      CaseGenotypingMethod: Genomic DNA extracted from periphera whole blood, emulsion PCR, 17 HCM genes sequenced using Personal Genome Machine (PGM) IonTorrent sequencer, variants confirmed via Sanger sequencing

      Variant: NM_000257.3(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091, https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.000007070, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Individual CaseInfo HCM NoInheritanceAssertion FamilyInfo FullPreviousTesting AdditionalPreviousTesting ClinVarID:14091 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    mdpi.com/1422-0067/17/8/1239/htm
  6. www.ahajournals.org www.ahajournals.org
    Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Imaging
    2
    1. ClingenBaseline 23 Oct 2026

      CaseMYH7-9: N/A

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: 1 other proband shares this genotype

      CaseGenotypingMethod: Testing for all 8 sarcomeric genes, plus GLA, LAMP2, and PRKAG2 was initiated in all probands. After the direct sequencing, the variants were filtered for pathogenicity and classified.

      Variant: NM_000257.3:c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: European (Non-Finnish) 1.548e-5, Overall 7.070e-6 https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting AutosomalDominant HCM SupplementalData ClinVarID:14091 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 22 Oct 2026

      Case#: Consequence 10 Table 1 in Data Supplement (2 cases)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      CAID: n/a

      gnomAD: 0.00001548 European (non-Finnish) https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      CaseInfo Individual InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:14091 Mutation:Germline PreviousTesting:Full inferred_gene_hgnc:7577 inferred_gene_source:RefSeq UNC Biocuration Core
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    ahajournals.org/doi/full/10.1161/CIRCIMAGING.116.005311
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ijms-21-03040.pdf
    2
    1. ClingenBaseline 23 Oct 2026
      HCM483

      Case#: HCM483, male, 37 years, smoker

      DiseaseAssertion: HCM

      FamilyInfo: None

      CasePresentingHPOs: 57mm LAD, 23mm LVST, 40mm LVEDD, 72% LVEF, 26mm Maxi LVWT, 70mmHg Maxi LVOTG, 132375212 raw RNA-seq reads, 125845538 HQ reads (95.07%), 96.52% mapping rate, 838862 total variant, 35806 exonic variant

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: RNA-seq, read mapping, variant calling, identify functional variants, differential expression analysis, miRWalk miRNA target prediction, LncRNA annotation, Co-expression network analysis, PPI network analysis, gene over-representation analysis,

      Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      CAID: N/A

      gnomAD: 0.00001548 European (non-finnish) https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Mutation:Germline ClinVarID:14091 PreviousTesting:Partial PreviousTesting:Additional inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026
      HCM506

      Case#: HCM506, male, 19 yr, smoker

      DiseaseAssertion: HCM

      FamilyInfo: None

      CasePresentingHPOs: 48mm LAD, 20mm LVST, 43mm LVEDD, 75% LVEF, 21mm Maxi LVWT, 59mmHg Maxi LVOTG, 104464396 raw RNA-seq reads, 98442104 HQ reads (94.24%), 96.88% mapping rate, 721500 total variant, 33453 exonic variant

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: RNA-seq, read mapping, variant calling, identify functional variants, differential expression analysis, miRWalk miRNA target prediction, LncRNA annotation, Co-expression network analysis, PPI network analysis, gene over-representation analysis,

      Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      CAID: N/A

      gnomAD: 0.00001548 European (non-finnish) https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Mutation:Germline ClinVarID: 14091 PreviousTesting:Partial PreviousTesting:Additional inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7246737/pdf/ijms-21-03040.pdf
  8. www.ahajournals.org www.ahajournals.org
    Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Genetics
    1
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001671
  9. www.ahajournals.org www.ahajournals.org
    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing | Circulation: Cardiovascular Genetics
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    1. ClingenBaseline 22 Oct 2026

      CaseMYH7-32: Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: 3 other probands share this genotype

      CasePreviousTesting: See Table 1

      CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.

      Variant: NM_000257.3:c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: European (Non-Finnish) 1.548e-5, Overall 7.070e-6 https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion HCM SupplementalData ClinVarID:14091 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001666
  10. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026

      Supplementary Material 4

      Case M-8: Japanese

      DiseaseAssertion: idiopathic cardiomyopathy (HCM and DCM)

      CasePreviousTesting: Clinical evaluation, chest radiography, electrocardiography, echocardiography, cardiac catheterization, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1)

      CaseGenotypingMethod: 8 sarcomeric genes amplified from genomic DNA via PCR then screened using bidirectional direct sequencing

      Variant: NM_000257.3(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091, https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.000007070, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Individual CaseInfo CMP DiseaseAssertion FullPreviousTesting NoInheritanceAssertion ClinVarID:14091 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00380-016-0920-0