Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Specialty Areas:
Date: February 19, 2025
Authors:
Logan C. Walker, Miguel de la Hoya, George A R Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M Canson, Dana Bis-Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Steven M. Harrison, Amanda B. Spurdle, ClinGen Sequence Variant Interpretation Working Group
Journal: American Journal of Human Genetics
Journal Volume: 110