The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve Eric Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre C. Pereira, Cinthia Elim Jannes, Margaret Chen, , Mafalda Bourbon
The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.
Genetics in Medicine · Nov 30, 2021Peer-reviewedGenetic & Genomic Medicine