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
131 110 402 324 33 21 902

Condition and significance breakdown #

Total conditions: 19
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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 105 15 252 303 20 0 695
Histiocytic medullary reticulosis 14 8 85 10 20 0 135
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 13 6 86 8 21 0 134
not provided 29 23 21 14 16 21 106
Combined immunodeficiency due to partial RAG1 deficiency 43 42 3 0 0 0 88
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 20 33 13 2 0 0 67
Inborn genetic diseases 0 0 54 1 0 0 55
not specified 0 0 23 9 10 0 41
Recombinase activating gene 1 deficiency 7 2 17 3 9 0 38
Severe combined immunodeficiency disease 18 6 5 4 1 0 34
Combined immunodeficiency with skin granulomas 13 4 1 0 2 0 19
RAG1-related disorder 6 2 1 6 1 0 16
Severe combined immunodeficiency, B cell-negative 6 0 0 0 0 0 6
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 4 0 0 0 5
Immunodeficiency 104 0 0 0 0 2 0 2
Inherited Immunodeficiency Diseases 0 2 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Cataract 3 multiple types 0 0 1 0 0 0 1
Primary ciliary dyskinesia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 105 15 251 303 20 0 694
Illumina Laboratory Services, Illumina 2 1 82 11 19 0 114
Baylor Genetics 41 41 4 0 0 0 86
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 8 23 8 4 0 63
Fulgent Genetics, Fulgent Genetics 20 32 8 1 0 0 61
Ambry Genetics 0 0 54 1 0 0 55
GeneDx 15 8 7 5 9 0 44
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 7 2 17 3 9 0 38
OMIM 24 0 0 0 1 0 25
UniProtKB/Swiss-Prot 0 0 0 0 0 20 20
Breakthrough Genomics, Breakthrough Genomics 0 0 2 6 12 0 20
PreventionGenetics, part of Exact Sciences 5 1 1 6 6 0 19
CeGaT Center for Human Genetics Tuebingen 7 2 3 6 1 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 7 0 12
Revvity Omics, Revvity 6 4 1 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 5 0 0 0 10
Blueprint Genetics 3 2 4 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 3 2 3 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 5 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 3 0 0 6
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 6 0 0 0 0 0 6
3billion 0 5 1 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 4 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 0 0 1 0 4
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 3 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 1 0 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Eurofins Ntd Llc (ga) 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 0 0 0 0 2 0 2
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 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 0 1
Pediatric Intensive Care Unit, Hunan Children's Hospital 0 0 1 0 0 0 1

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