ClinVar Miner

Variants in gene RAG1

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Gene type:
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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
127 88 359 294 33 21 813

Condition and significance breakdown #

Total conditions: 20
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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 99 17 247 276 20 0 659
Histiocytic medullary reticulosis 13 8 85 10 20 0 135
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 10 4 82 8 20 0 124
not provided 28 22 16 7 9 21 90
Combined immunodeficiency due to partial RAG1 deficiency 40 36 4 0 0 0 80
not specified 0 0 13 5 10 0 27
Severe combined immunodeficiency disease 12 3 5 4 1 0 25
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 4 3 12 2 0 0 21
Combined immunodeficiency with skin granulomas 13 3 2 0 2 0 19
Recombinase activating gene 1 deficiency 5 0 3 2 9 0 19
Inborn genetic diseases 0 0 18 0 0 0 18
Severe combined immunodeficiency, B cell-negative 6 0 0 0 0 0 6
RAG1-Related Disorders 2 1 0 0 0 0 3
RAG1-related condition 2 1 0 0 0 0 3
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
RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 99 17 247 276 20 0 659
Illumina Laboratory Services, Illumina 2 1 82 11 19 0 114
Baylor Genetics 38 35 5 0 0 0 78
GeneDx 13 8 6 5 9 0 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 5 13 4 3 0 39
OMIM 24 0 0 0 1 0 25
UniProtKB/Swiss-Prot 0 0 0 0 0 20 20
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 5 0 3 2 9 0 19
Ambry Genetics 0 0 18 0 0 0 18
CeGaT Center for Human Genetics Tuebingen 7 1 2 3 2 0 15
Fulgent Genetics, Fulgent Genetics 3 2 8 1 0 0 14
Revvity Omics, Revvity Omics 6 4 1 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 7 0 9
Blueprint Genetics 3 2 4 0 0 0 9
Preventiongenetics, part of Exact Sciences 2 1 0 0 5 0 8
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
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 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
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 0 0 0 0 2 0 2
MGZ Medical Genetics Center 0 1 0 0 0 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 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
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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