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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

American journal of human genetics - 7 Nov 2024

Richardson Marcy E, Holdren Megan, Brannan Terra, de la Hoya Miguel, Spurdle Amanda B, Tavtigian Sean V, Young Colin C, Zec Lauren, Hiraki Susan, Anderson Michael J, Walker Logan C, McNulty Shannon, Turnbull Clare, Tischkowitz Marc, Schon Katherine, Slavin Thomas, Foulkes William D, Cline Melissa, Monteiro Alvaro N, Pesaran Tina, Couch Fergus J

Abstract excerpt

The ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology, and variant interpretation. This VCEP made specifications for the American College of Medical Genetics and Association for Molecular Pathology (ACMG/AMP) guidelines for the ataxia telangiectasia mutated (ATM) gene...

Topics

Humans
Ataxia Telangiectasia Mutated Proteins
Germ-Line Mutation
Databases, Genetic
Genetic Testing
Female
Genetic Variation

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PMID: 39317201
DOI: 10.1016/j.ajhg.2024.08.022
PMCID: PMC11568761

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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