ClinVar Miner

Variants studied for combined immunodeficiency due to partial RAG1 deficiency

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
40 37 16 2 0 94

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
RAG1 40 37 16 2 94

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 38 35 4 0 77
Fulgent Genetics, Fulgent Genetics 3 2 8 1 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 1 5
OMIM 4 0 0 0 4
New York Genome Center 0 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 1

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