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Article

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

Genome medicine - 31 Dec 2019

Brnich Sarah E, Abou Tayoun Ahmad N, Couch Fergus J, Cutting Garry R, Greenblatt Marc S, Heinen Christopher D, Kanavy Dona M, Luo Xi, McNulty Shannon M, Starita Lea M, Tavtigian Sean V, Wright Matt W, Harrison Steven M, Biesecker Leslie G, Berg Jonathan S

Abstract excerpt

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for "well-established" functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively. However, they did not...

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PMID: 31892348
DOI: 10.1186/s13073-019-0690-2
PMCID: PMC6938631

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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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