Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000536.4(RAG2):c.22G>A (p.Val8Ile)
Likely Benign
recombinase activating gene 2 deficiency2024-01-17
1.0
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0RAG2
Showing 1 to 1 of 1 rows