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Article

Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.

Circulation. Genomic and precision medicine - 1 Oct 2020

Mattivi Connor L, Bos J Martijn, Bagnall Richard D, Nowak Natalie, Giudicessi John R, Ommen Steve R, Semsarian Christopher, Ackerman Michael J

Abstract excerpt

BACKGROUND: Missense variants in the MYH7-encoded MYH7 (beta myosin heavy chain 7) represent a leading cause of hypertrophic cardiomyopathy (HCM). MYH7-specific American College of Medical Genetics and Genomics (ACMG) variant classification guidelines were released recently but have yet to be assessed independently. We set out to assess the performance of the MYH7-specific ACMG guidelines and determine if the...

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Identifiers

PMID: 32894683
DOI: 10.1161/CIRCGEN.120.003039

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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