Article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Human mutation - 1 Dec 2022
Burdon Kathryn P, Graham Patricia, Hadler Johanna, Hulleman John D, Pasutto Francesca, Boese Erin A, Craig Jamie E, Fingert John H, Hewitt Alex W, Siggs Owen M, Whisenhunt Kristina, Young Terri L, Mackey David A, Dubowsky Andrew, Souzeau Emmanuelle
Abstract excerpt
The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific. To address this issue, the Clinical Genome Resource (ClinGen) Variant...
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