Case#: HCM439, male, 15 years,

DiseaseAssertion: HCM

FamilyInfo: Yes, father has HCM

CasePresentingHPOs: N/A

CaseHPOFreeText: inverted T-waves, ST-segment depression, 22mm MLVWT, 64% LVE F, 1.21 E/A ratio, LVOT-PG 14mm

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

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

MultipleGeneVariants:

(1) Variant: absent (MYH7-G407C)

ClinVar: absent

CAID: CA389051099

gnomAD: absent

(2) Variant: NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)

ClinVar: 43009 https://www.ncbi.nlm.nih.gov/clinvar/variation/43009/

CAID: N/A

gnomAD: 0.00002891 Latino/Admixed American https://gnomad.broadinstitute.org/variant/14-23886717-C-T

Case22: 14 year old male, gen III

DiseaseAssertion: HCM

FamilyInfo: Chinese, 4 additional family members present MYH7 mutation

CasePresentingHPOs: HP:0012378, HP:0002094

"Fatigue, Dyspnea"

CasePreviousTesting: exom sequencing MYH7, ACTC, CSRP3, TNNC1, MYH6, VCL, MYOZ2, JPH2, PLN, CALR2, and NEXN

GenotypingMethod: whole exome sequencing

Variant: NM_000257.4:c.1219G>T

ClinVar: not found

CAID: CA389051099

gnomAD: not found