Article
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Human mutation - 1 Aug 2022
Kountouris Petros, Stephanou Coralea, Lederer Carsten W, Traeger-Synodinos Joanne, Bento Celeste, Harteveld Cornelis L, Fylaktou Eirini, Koopmann Tamara T, Halim-Fikri Hashim, Michailidou Kyriaki, Nfonsam Landry E, Waye John S, Zilfalil Bin A, Kleanthous Marina
Abstract excerpt
Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published a joint guideline based on a set of shared standards for the classification of variants in Mendelian...
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