ClinVar Miner

Variants in gene RAG2

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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
81 102 239 203 12 1 551

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 65 27 146 193 8 1 439
Histiocytic medullary reticulosis 11 4 78 9 11 0 105
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6 3 35 5 7 0 55
Combined immunodeficiency with skin granulomas 15 28 5 0 0 0 47
not provided 8 17 11 6 8 0 47
Recombinase activating gene 2 deficiency 8 11 18 2 3 0 41
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6 26 7 2 0 0 39
Inborn genetic diseases 0 0 26 1 0 0 27
not specified 0 0 15 4 4 0 23
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Inborn error of immunity 0 6 5 0 1 0 12
RAG2-related disorder 3 1 2 4 0 0 10
Severe combined immunodeficiency disease 3 5 2 0 0 0 10
Recombinase activating gene 2 deficiency; Inborn error of immunity 0 3 2 0 1 0 6
Severe combined immunodeficiency, B cell-negative 5 1 0 0 0 0 6
Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity 0 2 3 0 0 0 5
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity 0 2 1 1 0 0 4
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity 1 0 2 0 0 0 3
Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Inborn error of immunity 0 2 1 0 0 0 3
Common variable immunodeficiency 2 0 0 0 0 0 2
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity 0 1 0 0 0 0 1
Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity 0 1 0 0 0 0 1
Immunodeficiency 104 0 0 1 0 0 0 1
Salla disease 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 27 146 193 8 0 439
Natera, Inc. 7 2 52 5 7 0 73
Baylor Genetics 14 29 3 0 0 0 46
Illumina Laboratory Services, Illumina 0 0 31 4 7 0 42
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 7 11 18 2 3 0 41
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer 1 17 14 1 2 0 35
Fulgent Genetics, Fulgent Genetics 6 24 3 0 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 15 3 2 0 30
Ambry Genetics 0 0 26 1 0 0 27
GeneDx 5 7 2 2 8 0 24
PreventionGenetics, part of Exact Sciences 3 1 2 4 1 0 11
OMIM 10 0 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 6 2 0 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 1 3 5 0 9
CeGaT Center for Human Genetics Tuebingen 2 2 0 3 1 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 1 3 0 7
Genome-Nilou Lab 0 1 4 0 1 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 1 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 2 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Counsyl 0 1 1 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 1 0 3
Revvity Omics, Revvity 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics 1 0 0 0 0 0 1

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