ClinVar Miner

Variants studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Coded as:
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 not provided total
97 102 161 320 24 29 631

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADA 84 90 130 249 14 27 501
ADA, LOC107303343 12 11 31 71 10 2 128
ADA, LOC107303343, LOC108167311, LOC108167312 1 0 0 0 0 0 1
JAK3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 30 108 311 16 0 549
Natera, Inc. 16 6 40 11 7 0 80
Genome-Nilou Lab 27 14 14 7 12 0 74
Baylor Genetics 32 37 1 0 0 0 70
Counsyl 4 24 18 0 0 0 46
Illumina Laboratory Services, Illumina 0 1 26 5 8 0 40
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 10 10 7 3 3 0 33
UniProtKB/Swiss-Prot 0 0 0 0 0 29 29
OMIM 17 0 1 0 0 0 18
Myriad Genetics, Inc. 1 17 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 4 2 6 1 1 0 14
Revvity Omics, Revvity 5 4 4 0 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 5 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Mendelics 0 1 0 0 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 2 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Pars Genome Lab 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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.