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Article

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2014

Das K Jipin, Ingles Jodie, Bagnall Richard D, Semsarian Christopher

Abstract excerpt

PURPOSE: Major advances have been made in our understanding and clinical application of genetic testing in hypertrophic cardiomyopathy. Determining pathogenicity of a single-nucleotide variant remains a major clinical challenge. This study sought to reassess single-nucleotide variant classification in hypertrophic cardiomyopathy probands. METHODS: Consecutive probands with hypertrophic cardiomyopathy with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24113344
DOI: 10.1038/gim.2013.138

Genes

MYBPC3
MYH7

Provenance

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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