Article

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline<i>ATM</i>sequence variants

2024-05-29

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 ACMG/AMP guidelines for the ataxia telangiectasia mutated ( ATM ) gene according to the Food and Drug Administration (FDA)-approved ClinGen protocol. These gene...

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Literature Corpus work: 15fa9a01-7c8c-5dee-bc64-ff14263e132f
DOI: 10.1101/2024.05.28.24307502

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