ClinVar Miner

Variants in gene DUOX2

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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 total
20 30 197 81 50 310

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Thyroid dyshormonogenesis 6 8 15 172 15 17 223
not provided 15 15 27 65 29 148
not specified 0 0 3 3 14 19
Congenital hypothyroidism 3 2 3 0 0 8
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 5
Inborn genetic diseases 1 1 1 0 0 3
Familial thyroid dyshormonogenesis 2 0 0 0 0 2
Meckel syndrome, type 11 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 5 174 15 16 212
Invitae 8 3 17 65 29 122
GeneDx 4 9 12 2 0 27
PreventionGenetics, PreventionGenetics 0 0 0 0 14 14
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 4 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 4 5
OMIM 4 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 4
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 4 0 0 0 4
Ambry Genetics 1 1 1 0 0 3
Mendelics 0 0 1 0 2 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 2 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 3
Polak associated Lab,IMAGINE Institute 2 1 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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