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ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel (ClinGen)

FDA Recognized Database

General information

ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50091/
Organization ID: 509310

Personnel

Assertion criteria

Level: Expert panel

Summary of submissions to ClinVar

Total submissions: 445

Gene

GeneSubmissionsLast Updated
ADA61May 12, 2026
DCLRE1C91May 5, 2026
FOXN151Aug 5, 2026
IL2RG52Apr 24, 2026
IL7R37Oct 18, 2024
JAK330Apr 24, 2026
LOC1073033434May 12, 2026
LOC1268632746Oct 18, 2024
PKIG1Feb 1, 2024
RAG149May 6, 2026
RAG241Oct 18, 2024
RMRP28Jan 20, 2026

Condition

NameSubmissionsLast Updated
Immunodeficiency 10440Aug 5, 2026
Metaphyseal chondrodysplasia, McKusick type28Jan 20, 2026
Recombinase activating gene 1 deficiency49May 6, 2026
Recombinase activating gene 2 deficiency41Oct 18, 2024
Severe combined immunodeficiency disease1May 12, 2026
Severe combined immunodeficiency due to DCLRE1C deficiency91May 5, 2026
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency60May 12, 2026
T-B+ severe combined immunodeficiency due to JAK3 deficiency32Aug 5, 2026
T-cell immunodeficiency, congenital alopecia, and nail dystrophy51Aug 5, 2026
X-linked severe combined immunodeficiency52Apr 24, 2026