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Article

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome medicine - 29 Nov 2019

Kanavy Dona M, McNulty Shannon M, Jairath Meera K, Brnich Sarah E, Bizon Chris, Powell Bradford C, Berg Jonathan S

Abstract excerpt

BACKGROUND: The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that "well-established" functional studies can be used as evidence in variant classification. These guidelines articulated key attributes of functional data, including that assays should reflect the biological environment and...

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Identifiers

PMID: 31783775
DOI: 10.1186/s13073-019-0683-1
PMCID: PMC6884856

Genes

CDH1
MYH7
PAH
PTEN

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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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