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Article

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department.

Journal of medical genetics - 26 Feb 2025

Horgan Sinead, Kotwal Huafrin, Malan Antonetta, Sekhri Neha, Lopes Luis R

Abstract excerpt

BACKGROUND: The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a substantial proportion of cases (around 50%) yield no causative genetic variants or have variants of unknown significance (VUS), limiting their use in clinical management and familial screening. The increase in data...

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Cardiomyopathies
Cardiomyopathy and Myosin Studies
Cardiomyopathy, Dilated
Cardiomyopathy, Hypertrophic
Cardiovascular Effects of Exercise

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Genetic Testing

Genetic Variation

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PMID: 39694818
DOI: 10.1136/jmg-2024-110208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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