CaseMYH7-1:

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

HPOsFreeText:

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo:

CasePreviousTesting: All sarcomeric genes were tested in each proband. The probands were tested upon diagnosis, so no record of the method used is provided.

CaseGenotypingMethod: Each variant was classified for pathogenicity and rarity.

Variant: NM_000257.3:c.1013T>A (p.Val338Glu)

ClinVar: 492983 https://www.ncbi.nlm.nih.gov/clinvar/variation/492983/

gnomAD: Not in gnomAD