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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLRvariant classification
- Source :
- Genetics in Medicine; February 2022, Vol. 24 Issue: 2 p293-306, 14p
- Publication Year :
- 2022
-
Abstract
- In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 24
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs58800098
- Full Text :
- https://doi.org/10.1016/j.gim.2021.09.012