The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty, Justyne E. Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto-Patlán, Shiloh Martin, Benjamin McLean, Marwa Elnagheeb, Morton Jerome Cowan, Jennifer M. Puck, M S Hershfield, James W. Verbsky, Jolan Eszter Walter, , Xinrui Shi
The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.
Genetics in Medicine · Oct 15, 2025Peer-reviewedGenetic & Genomic Medicine