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Article

Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes.

The Journal of molecular diagnostics : JMD - 1 Jun 2026

Marek-Yagel Dina, Greenberg Rotem, Naftali Michal, Ben-Shachar Shay, Isakov Ofer

Abstract excerpt

Gene-specific variant interpretation guidelines are constantly being published to refine variant classification. The development, implementation, and benefit of such guidelines require careful assessment. This study evaluates the utility of these guidelines on variant interpretation. All actionable genes listed in American College of Medical Genetics and Genomics-Secondary findings version 3.3 genes with...

Topics

Humans
Genetic Variation
Genomics
Genetic Testing
Genome, Human
Databases, Genetic
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 41997480
DOI: 10.1016/j.jmoldx.2026.03.007

Genes

BRCA1
BRCA2
LDLR
PALB2
TPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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