Article
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Blood advances - 26 Jan 2021
Ross Justyne E, Zhang Bing M, Lee Kristy, Mohan Shruthi, Branchford Brian R, Bray Paul, Dugan Stefanie N, Freson Kathleen, Heller Paula G, Kahr Walter H A, Lambert Michele P, Luchtman-Jones Lori, Luo Minjie, Perez Botero Juliana, Rondina Matthew T, Ryan Gabriella, Westbury Sarah, Bergmeier Wolfgang, Di Paola Jorge
Abstract excerpt
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification among different clinical laboratories, the American College of Medical Genetics and Genomics (ACMG), along with the Association for Molecular Pathology (AMP),...
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