Supplementary Data table 1

Case:

DiseaseAssertion: hypertrophic cardiomyopathy

CaseHPOFreeText: maximal wall thickness (MWT) ≥15 mm

CasePreviousTesting: Full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (TNNC1, CSRP3, TCAP, ABCC9, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FHL1, GLA, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MIB1, MYH6, MYOZ2, MYPN, NEXN, PKP2, PLN, PRDM16, PRKAG2, RBM20, SCN5A, TAZ, TMEM43, TNNC1, TTN, TTR, VCL), electrocardiography

CaseGenotypingMethod: direct sequencing of all coding intron-exon boundaries of 12 genes (prior to 2012), next-generation sequencing (post 2012)

Variant: NM_000257.3(MYH7):c.2081G>A (p.Arg694His)

ClinVar: 264068, https://www.ncbi.nlm.nih.gov/clinvar/variation/264068/

gnomAD: 0.00001061, https://gnomad.broadinstitute.org/variant/14-23895254-C-T

Case#: HCM275, male, 59 years, I-1

DiseaseAssertion: HCM

FamilyInfo: Yes, daughter has HCM

CasePresentingHPOs: syncope (HP:0001279)

CaseHPOFreeText: inverted T-waves, ST-segment depression, 28mm MLVWT, 65% LVE F, 1.3 E/A ratio, LVOT-PG 68mm

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

CaseGenotypingMethod: sequencing, physical examination, ECG, 3D modeling, statistical analysis

MultipleGeneVariants:

(1) Variant: NM_000257.4(MYH7):c.2081G>A (p.Arg694His)

ClinVar: 264068 https://www.ncbi.nlm.nih.gov/clinvar/variation/264068/

CAID: N/A

gnomAD: 0.00004008 African/African-American https://gnomad.broadinstitute.org/variant/14-23895254-C-T

(2) Variant: NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)

ClinVar: 43049 https://www.ncbi.nlm.nih.gov/clinvar/variation/43049/

CAID: N/A

gnomAD: 0.0002894 Ashkenazi Jewish https://gnomad.broadinstitute.org/variant/14-23885010-C-T