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
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50091/
Organization ID: 509310
Personnel
- Haley Garrett, Coordinator
Phone: 9198436475
Email: Haley_Garrett@med.unc.edu - Michelle Zelnick, Coordinator
Phone: 9375243414
Email: michelle.zelnick@bcm.edu
Assertion criteria
Level: Expert panel
- ClinGen SCID ACMG Specifications ADA V1.0.0
- ClinGen SCID ACMG Specifications DCLRE1C V1.0.0
- ClinGen SCID ACMG Specifications FOXN1 V1.0.0
- ClinGen SCID ACMG Specifications IL2RG V1.0.0
- ClinGen SCID ACMG Specifications IL7R V1.0.0
- ClinGen SCID ACMG Specifications JAK3 V1.0.0
- ClinGen SCID ACMG Specifications RAG1 V1.0.0
- ClinGen SCID ACMG Specifications RAG2 V1.0.0
Summary of submissions to ClinVar
Total submissions: 387
Gene
Gene | Submissions | Last Updated |
---|---|---|
ADA | 56 | Oct 18, 2024 |
DCLRE1C | 90 | Oct 18, 2024 |
FOXN1 | 49 | Oct 29, 2024 |
IL2RG | 48 | Oct 18, 2024 |
IL7R | 37 | Oct 18, 2024 |
JAK3 | 28 | Jul 18, 2024 |
LOC107303343 | 3 | Nov 14, 2023 |
LOC126863274 | 6 | Oct 18, 2024 |
RAG1 | 38 | Oct 18, 2024 |
RAG2 | 41 | Oct 18, 2024 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Immunodeficiency 104 | 37 | Oct 18, 2024 |
Recombinase activating gene 1 deficiency | 38 | Oct 18, 2024 |
Recombinase activating gene 2 deficiency | 41 | Oct 18, 2024 |
Severe combined immunodeficiency due to DCLRE1C deficiency | 90 | Oct 18, 2024 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 56 | Oct 18, 2024 |
T-B+ severe combined immunodeficiency due to JAK3 deficiency | 28 | Jul 18, 2024 |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 49 | Oct 29, 2024 |
X-linked severe combined immunodeficiency | 48 | Oct 18, 2024 |