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

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

10.1038/gim.2017.218

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Bibliographic Details
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
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Institution:	National University of Singapore

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