Abstract 4341994: Penetrance of Cardiomyopathy-Associated Variants in a Population-Based Cohort Supports ClinGen Gene Validity Classifications
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DOI: 10.1161/circ.152.suppl_3.4341994
Abstract: Introduction: Cardiomyopathies, including hypertrophic (HCM) and dilated (DCM), are heterogeneous heart muscle disorders contributing significantly to heart failure, arrhythmias, and sudden cardiac death. While guidelines recommend genetic testing for affected individuals and relatives, uncertainty persists… read more here.
Keywords: clingen; definitive strong; cohort; penetrance ... See more keywords