Po-629-01 leveraging signal-to-noise analysis to expand clinical utility of pathogenicity criteria for incidental variants in hypertrophic cardiomyopathy-associated genes

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental variants in HCM-associated genes are being identified more frequently. Diagnostic interpretation of incidental variants is crucial to enhance clinical patient management.