Case1: 18 year old male

DiseaseAssertion: Hypertrophic Cardiomyopathy

FamilyInfo: parents and 2 siblings all phenotype negative for HCM, tested negative for the mutation

CasePresentingHPOs: HP:0001639, HP:0031992, HP:0031972, HP:0004755, HP:0004756

"Hypertrophic cardiomyopathy, Apical hypertrophic cardiomyopathy, presyncope, Supraventricular tachycardia, Ventricular tachycardia"

CasePreviousTesting: Authors simply state "on genetic testing"

Variant: NM_000257.4:c.1588A>G

ClinVar: 520309

CAID: CA028909

gnomAD: https://gnomad.broadinstitute.org/variant/14-23897094-T-C?dataset=gnomad_r2_1

Total Allele Frequency 0.000003980 South Asian 0.00003266