P579: Evaluating the impact of ClinGen/ACMG/AMP/CAP beta version 4 guidelines on variant classification within the ClinGen ACADVL Variant Curation Expert Panel

Genetics in Medicine Open 2026 Open access

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Authors: Alexa Dickson, James Hummer, Rong Mao, Elaine Spector, Meredith A. Weaver, Ashley Ratzsch
DOI: 10.1016/j.gimo.2026.104070
Cited by: 1

Abstract

The 2015 ACMG/AMP variant interpretation framework established standardized criteria for classifying sequence variants but has shown variability in reproducibility and evidence weighting across genes and Clinical Genome Resource (ClinGen) expert panels. To address these limitations, the ClinGen/ACMG/AMP/CAP Variant Classification Working Group developed an updated framework in beta versioning at the time of this abstract submission (v4) featuring variant type–specific flowcharts designed to improve transparency, logic consistency, and interpretive alignment.

Fields of Study & Subjects

Genomics and Rare Diseases Health Systems Economic Evaluations Quality of Life Artificial Intelligence in Healthcare and Education

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
104070–104070
Publication date
1 January 2026
Language
EN