ClinVar Miner

Variants studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (9):
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
97 37 408 165 82 749

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JAK3 19 6 207 67 37 309
IL2RG 47 26 39 29 20 154
CORO1A 6 1 38 35 9 88
CD3E 5 2 43 13 9 69
CD247 7 1 35 15 6 63
CD3D 5 0 42 6 1 53
ALDOA, CORO1A, GDPD3, LOC112694756, MAPK3, PPP4C, TBX6, YPEL3, YPEL3-DT 2 0 2 0 0 4
LAT 3 0 1 0 0 4
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 1 0 1 0 0 2
LRBA 1 1 0 0 0 2
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 55 20 275 144 60 554
Illumina Clinical Services Laboratory,Illumina 0 0 138 18 35 191
OMIM 33 0 0 0 0 33
Baylor Genetics 2 1 10 0 0 13
Integrated Genetics/Laboratory Corporation of America 2 10 0 0 0 12
Natera, Inc. 1 0 4 5 0 10
Mendelics 4 2 0 1 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 6 0 0 7
GeneReviews 5 0 0 0 0 5
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Department of Immunology, School of Medicine,Complutense University 2 0 0 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
Counsyl 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Klein lab, Ludwig-Maximilians-University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Immunology Clinic,UCLA 1 0 0 0 0 1

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