Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
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; Rachid Karam; Steven M Harrison; Amanda B Spurdle; ClinGen Sequence Variant Interpretation Working Group
Collaborators: Broad Institute of MIT and Harvard; GeneDx; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos; Natera; QIMR Berghofer Medical Research Institute; University of Otago