ClinVar Miner

Variants from ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Location: United States  Primary collection method: curation
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
56 43 75 31 36 241

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DCLRE1C 10 10 38 4 6 68
IL7R 7 5 4 8 8 32
ADA 10 9 7 2 2 30
IL2RG 11 3 7 5 1 27
RAG1 6 1 8 3 9 27
JAK3 4 3 7 6 6 26
RAG2 6 11 4 2 3 26
ADA, LOC107303343 0 1 0 1 1 3
IL2RG, LOC126863274 2 0 0 0 0 2

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Severe combined immunodeficiency due to DCLRE1C deficiency 10 10 38 4 6 68
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 10 10 7 3 3 33
Immunodeficiency 104 7 5 4 8 8 32
X-linked severe combined immunodeficiency 13 3 7 5 1 29
Recombinase activating gene 1 deficiency 6 1 8 3 9 27
Recombinase activating gene 2 deficiency 6 11 4 2 3 26
T-B+ severe combined immunodeficiency due to JAK3 deficiency 4 3 7 6 6 26

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