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