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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: 241

Gene

GeneSubmissionsLast Updated
ADA33Apr 4, 2024
DCLRE1C68Apr 5, 2024
IL2RG29Apr 5, 2024
IL7R32Apr 5, 2024
JAK326Apr 4, 2024
LOC1073033433Nov 14, 2023
LOC1268632742Nov 14, 2023
RAG127Apr 5, 2024
RAG226Apr 4, 2024

Condition

NameSubmissionsLast Updated
Immunodeficiency 10432Apr 5, 2024
Recombinase activating gene 1 deficiency27Apr 5, 2024
Recombinase activating gene 2 deficiency26Apr 4, 2024
Severe combined immunodeficiency due to DCLRE1C deficiency68Apr 5, 2024
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency33Apr 4, 2024
T-B+ severe combined immunodeficiency due to JAK3 deficiency26Apr 4, 2024
X-linked severe combined immunodeficiency29Apr 5, 2024