ClinVar Miner

Variants in gene RAG1

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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
63 32 220 49 32 20 374

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 30 5 134 32 16 0 217
Histiocytic medullary reticulosis 13 1 83 10 19 0 126
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6 1 79 8 19 0 113
not provided 19 15 6 8 1 20 65
Combined cellular and humoral immune defects with granulomas 12 2 0 0 0 0 13
not specified 0 0 0 2 10 0 12
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity 6 1 4 0 0 0 11
Severe Combined Immune Deficiency 1 0 5 3 0 0 9
Severe combined immunodeficiency, B cell-negative 6 0 0 0 0 0 6
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 2 2 0 0 0 5
Severe combined immunodeficiency disease 1 2 0 1 1 0 5
none provided 0 0 0 0 4 0 4
RAG1-Related Disorders 2 1 0 0 0 0 3
Inherited Immunodeficiency Diseases 0 2 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Primary ciliary dyskinesia 0 0 1 0 0 0 1
RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 5 134 36 16 0 221
Illumina Clinical Services Laboratory,Illumina 2 1 82 11 19 0 114
GeneDx 11 8 1 2 5 0 27
OMIM 24 0 0 0 1 0 25
UniProtKB/Swiss-Prot 0 0 0 0 0 20 20
Integrated Genetics/Laboratory Corporation of America 4 4 0 1 3 0 12
Blueprint Genetics 3 2 4 0 0 0 9
Baylor Genetics 3 0 5 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 1 0 0 0 7
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 6 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 4 0 5
PreventionGenetics, PreventionGenetics 0 0 0 0 5 0 5
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 3 0 0 0 4
Mendelics 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 0 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 1

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