ClinVar Miner

Variants studied for Omenn syndrome

Included ClinVar conditions (8):
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
23 19 248 36 52 352

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DCLRE1C 3 2 101 17 20 134
RAG1 14 3 84 10 19 130
RAG2 6 13 61 9 12 84
IFTAP, RAG2 0 0 2 0 1 3
IL7R 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 194 21 42 258
Natera, Inc. 3 0 46 14 16 79
OMIM 19 0 0 0 0 19
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 10 8 0 1 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 5 0 0 7
Integrated Genetics/Laboratory Corporation of America 3 2 0 0 0 5
Baylor Genetics 1 1 2 0 0 4
Fulgent Genetics,Fulgent Genetics 1 1 2 0 0 4
Counsyl 0 1 1 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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