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Article

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2023

Bhat Vineel, Adzhubei Ivan A, Fife James D, Lebo Matthew, Cassa Christopher A

Abstract excerpt

PURPOSE: This study aimed to explore whether evidence of pathogenicity from prior variant classifications in ClinVar could be used to inform variant interpretation using the American College of Medical Genetics and Genomics/Association for Molecular Pathology clinical guidelines. METHODS: We identified distinct single-nucleotide variants (SNVs) that are either similar in location or in functional consequence to...

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Identifiers

PMID: 36305854
DOI: 10.1016/j.gim.2022.09.009
PMCID: PMC10223563

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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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