Article
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022
Chora Joana R, Iacocca Michael A, Tichý Lukáš, Wand Hannah, Kurtz C Lisa, Zimmermann Heather, Leon Annette, Williams Maggie, Humphries Steve E, Hooper Amanda J, Trinder Mark, Brunham Liam R, Costa Pereira Alexandre, Jannes Cinthia E, Chen Margaret, Chonis Jessica, Wang Jian, Kim Serra, Johnston Tami, Soucek Premysl, Kramarek Michal, Leigh Sarah E, Carrié Alain, Sijbrands Eric J, Hegele Robert A, Freiberger Tomáš, Knowles Joshua W, Bourbon Mafalda
Abstract excerpt
PURPOSE: 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...
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