ClinVar Miner

Variants studied for T-B+ severe combined immunodeficiency

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
55 15 48 24 31 172

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JAK3 10 0 22 11 16 59
IL2RG 27 13 6 2 1 48
CD247 6 1 6 5 4 22
CORO1A 4 0 3 4 4 15
CD3E 2 1 4 1 6 14
CD3D 3 0 6 1 0 10
ALDOA, CORO1A, GDPD3, LOC101928595, LOC112694756, MAPK3, PPP4C, TBX6, YPEL3 1 0 1 0 0 2
LAT 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 5 45 23 30 120
OMIM 32 0 0 0 0 32
Integrated Genetics/Laboratory Corporation of America 1 8 0 0 0 9
GeneReviews 5 0 0 0 0 5
Fulgent Genetics 1 1 0 0 0 2
Department of Immunology, School of Medicine,Complutense University 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 2
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 1
Immunology Clinic,UCLA 1 0 0 0 0 1

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