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Article

Specification of frequency criteria for secondary findings genes to improve variant classification concordance.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2026

Johnston Jennifer J, Lee Kristy, Ritter Deborah I, Harrison Steven M, Biesecker Leslie G

Abstract excerpt

PURPOSE: The return of secondary findings is well established in clinical testing and is increasingly used in clinical research testing. Variant classification can be challenging because of the lack of monogenic disease entity (MDE, defined as a gene-phenotype pair)-specific variant classification recommendations. A key criterion for variant classification is disease allele frequency thresholds (DAFTs), which are...

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Identifiers

PMID: 41842695
DOI: 10.1016/j.gim.2026.102552
PMCID: PMC13170090

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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