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
46 22 88 20 17 20 187

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Histiocytic medullary reticulosis 12 1 44 14 2 0 73
Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 10 1 38 4 12 0 65
Severe Combined Immune Deficiency 0 0 44 14 2 0 60
not provided 12 13 6 0 2 20 50
not specified 0 0 0 2 10 0 12
Combined cellular and humoral immune defects with granulomas 8 1 0 0 0 0 8
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 6 1 0 0 0 0 7
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 5 0 0 0 0 0 5
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 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
RAG1-Related Disorders 2 1 0 0 0 0 3
RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 2 38 4 12 0 69
Illumina Clinical Services Laboratory,Illumina 2 1 44 14 2 0 63
OMIM 24 0 0 0 1 0 25
GeneDx 9 8 1 2 5 0 25
UniProtKB/Swiss-Prot 0 0 0 0 0 20 20
Integrated Genetics/Laboratory Corporation of America 2 4 0 1 2 0 9
Blueprint Genetics 3 2 4 0 0 0 9
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 6 0 0 0 0 0 6
PreventionGenetics 0 0 0 0 5 0 5
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1

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