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

doi:10.1038/gim.2017.218

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018

Kelly Melissa A, Caleshu Colleen, Morales Ana, Buchan Jillian, Wolf Zena, Harrison Steven M, Cook Stuart, Dillon Mitchell W, Garcia John, Haverfield Eden, Jongbloed Jan D H, Macaya Daniela, Manrai Arjun, Orland Kate, Richard Gabriele, Spoonamore Katherine, Thomas Matthew, Thomson Kate, Vincent Lisa M, Walsh Roddy, Watkins Hugh, Whiffin Nicola, Ingles Jodie, van Tintelen J Peter, Semsarian Christopher, Ware James S, Hershberger Ray, Funke Birgit

Abstract excerpt

PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited...

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PMID: 29300372
DOI: 10.1038/gim.2017.218
PMCID: PMC5876064

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MYH7

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