ClinVar Miner

Variants in gene DUOX2

Minimum submission review status: Collection method:
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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
16 23 184 71 50 284

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Thyroid dyshormonogenesis 6 8 13 172 15 17 221
not provided 11 11 10 55 29 114
not specified 0 0 3 3 14 19
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 5
Congenital hypothyroidism 1 0 3 0 0 4
Familial thyroid dyshormonogenesis 2 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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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 5 0 0 55 29 89
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
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 4 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 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
Ambry Genetics 0 1 1 0 0 2
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
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 2
Mayo Clinic Genetic Testing 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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