Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

• Main Authors: Kelly, M.A, Caleshu, C, Morales, A
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: Nature Publishing Group 2020
• Subjects: myosin heavy chain; cardiac myosin; MYH7 protein, human; adult; Article; cardiomyopathy; conceptual framework; congestive cardiomyopathy; controlled study; disease classification; gene; gene frequency; genetic screening; genetic variability; human; hypertrophic cardiomyopathy; laboratory diagnosis; MYH7 gene; pathogenesis; pilot study; restrictive cardiomyopathy; retrospective study; allele; clinical decision making; expert witness; genetic disorder; genetic variation; genetics; phenotype; procedures; reproducibility; standards; Alleles; Cardiac Myosins; Cardiomyopathies; Clinical Decision-Making; Expert Testimony; Gene Frequency; Genetic Diseases, Inborn; Genetic Testing; Genetic Variation; Humans; Myosin Heavy Chains; Phenotype; Reproducibility of Results
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/179048
• Institution: National University of Singapore

10.1038/gim.2017.218