Article
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
American journal of human genetics - 6 Jul 2023
Walker Logan C, Hoya Miguel de la, Wiggins George A R, Lindy Amanda, Vincent Lisa M, Parsons Michael T, Canson Daffodil M, Bis-Brewer Dana, Cass Ashley, Tchourbanov Alexander, Zimmermann Heather, Byrne Alicia B, Pesaran Tina, Karam Rachid, Harrison Steven M, Spurdle Amanda B
Abstract excerpt
The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1, PS3, PP3, BS3, BP4, and BP7. However, the lack of guidance on how to apply such codes has contributed to variation in the specifications developed by different Clinical Genome Resource (ClinGen)...
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