№ lp_1_2_05798
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The document provides detailed classification criteria for BRCA1 and BRCA2 gene variants, intended for use in genetic diagnostics and research to categorize variants based on the ACMG/AMP system.
Year: 2024
Region / City: N/A
Topic: BRCA1 & BRCA2 variant classification
Document type: Classification guidelines
Organization / Institution: ACMG/AMP, ENIGMA
Author: Variant Curation Expert Panel
Target audience: Geneticists, researchers, healthcare professionals
Period of validity: N/A
Approval date: 2024-11-18
Modification date: N/A
Price: 8 / 10 USD
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Appendices-BRCA1 & BRCA2 ACMG/AMP rules specifications, V1.2 2024-11-18
Year: 2024
Note: Region / City
Subject: BRCA1, BRCA2, ACMG, AMP, pathogenicity, genetic variants
Document type: Technical specification
Appendices-BRCA1 & BRCA2 ACMG/AMP rules specifications, V1.2 2024-11-18
Year: 2024
Note: Region / City
Subject: BRCA1, BRCA2, ACMG, AMP, pathogenicity, genetic variants
Document type: Technical specification
ACMG/AMP Classification Rules Specified for BRCA1 & BRCA2ENIGMA Variant Curation Expert Panel, Classification Criteria V1.0 2023-04-27
Year: 2023
Region / City: Global
Topic: Variant Classification
Document Type: Technical Specification
Organization / Institution: ACMG/AMP, ENIGMA Variant Curation Expert Panel
Author: Unknown
Target Audience: Researchers, Geneticists, Clinicians
Period of Validity: Ongoing
Approval Date: 2023-04-27
Date of Changes: None
Appendices-BRCA1 & BRCA2 ACMG/AMP rules specifications, V1.2 2024-11-18
Year: 2024
Note: Region / City
Subject: BRCA1, BRCA2, ACMG, AMP, pathogenicity, genetic variants
Document type: Technical specification
Supplementary Table 1. Rare germline pathogenic, likely pathogenic, or deleterious (P/LP/D) variants (n=51) in BRCA2, ATM, NBN, and PALB2 identified among men of African ancestry.
Note: Gene
Year: 2020
Region / city: Not specified
Topic: Genetic variants, Germline mutations
Document type: Supplementary Table
Author: Matejcic et al
Target audience: Researchers in genetics, oncology
Period of validity: Not specified
Approval date: Not specified
Modification date: Not specified
Topics: 2024-11-18 ACMGAMP BRCA2