Case1:Female diagnosed at 28

DiseaseAssertion:HCM, ASH, LVEF

FamilyInfo:Sister with HCM, ASH, and mid-LV cavity obstruction

ParentalTesting:NR

CasePresentingHPOs:HP:0001639, HP:0001670, HP:0034314, HP:0001279

CaseHPOFreeText:Hypertrophic cardiomyopathy, Asymmetric Septal Hypertrophy, Abnormal Left Ventricular Ejection Fraction, Syncope

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting:NR

Genotyping Method:Not detailed

FunctionalAnalysis:MYL3 A57G

Variant:c.170C>G (p.Ala57Gly)

ClinVar:31780

CAID:CA013589

gnomAD:NR

AdditionalInfo:NR