ClinVar Miner

Variants studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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 total
16 7 127 13 28 190

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RAG1 10 4 87 8 20 129
RAG2 5 3 35 5 7 54
IFTAP, RAG2 0 0 2 0 1 3
JAK3 0 0 2 0 0 2
ADA 1 0 0 0 0 1
TXNDC15 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 107 12 27 146
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 7 0 0 11
Genome-Nilou Lab 0 1 4 0 2 7
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 4 0 0 5
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 4 0 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Pars Genome Lab 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 1
Pediatric Intensive Care Unit, Hunan Children's Hospital 0 0 1 0 0 1

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