ClinVar Miner

Variants studied for combined immunodeficiency, X-linked

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
6 2 0 0 0 8

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
IL2RG 6 2 8

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic total
OMIM 2 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 2
Baylor Genetics 0 1 1
Fulgent Genetics,Fulgent Genetics 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1

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