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
70 16 94 13 5 196

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JAK3 15 1 42 5 3 66
IL2RG 33 13 11 1 0 57
CD247 7 1 9 4 1 21
CORO1A 5 0 11 2 0 18
CD3D 4 0 10 0 0 14
CD3E 2 1 9 1 1 14
ALDOA, CORO1A, GDPD3, LOC101928595, LOC112694756, MAPK3, PPP4C, TBX6, YPEL3 2 0 2 0 0 4
LAT 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 30 4 90 10 4 138
OMIM 32 0 0 0 0 32
Integrated Genetics/Laboratory Corporation of America 1 8 0 0 0 9
Mendelics 4 2 0 1 0 7
GeneReviews 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
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
Illumina Clinical Services Laboratory,Illumina 0 0 1 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
Immunology Clinic,UCLA 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.