ClinVar Miner

Variants in gene RNASEH2B

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 total
31 33 174 226 21 459

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Aicardi-Goutieres syndrome 2 28 26 159 209 13 420
not provided 5 14 12 20 12 56
Inborn genetic diseases 0 1 20 1 0 22
not specified 0 0 10 0 9 19
Aicardi Goutieres syndrome 5 3 0 1 0 8
RNASEH2B-related disorder 2 0 0 4 0 6
Autism spectrum disorder 1 0 1 0 0 2
Abnormality of the nervous system 1 0 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 1
Cerebral palsy 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 25 15 137 208 13 398
GeneDx 4 8 1 10 9 32
Illumina Laboratory Services, Illumina 1 0 23 3 2 29
Ambry Genetics 0 1 20 1 0 22
Fulgent Genetics, Fulgent Genetics 5 7 5 2 1 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 10 0 1 19
CeGaT Center for Human Genetics Tuebingen 1 1 5 6 1 14
Breakthrough Genomics, Breakthrough Genomics 1 0 2 5 4 12
Athena Diagnostics 1 1 1 0 6 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 2 2 8
PreventionGenetics, part of Exact Sciences 2 0 0 4 1 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 2 1 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 2 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 0 3
Eurofins Ntd Llc (ga) 1 0 1 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 2 0 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
OMIM 2 0 0 0 0 2
Revvity Omics, Revvity 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 0 0 2
New York Genome Center 1 0 1 0 0 2
DASA 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 1

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