ClinVar Miner

Variants in gene DUOX2

See also:
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
164 148 974 957 115 2158

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 147 69 742 935 113 1947
Thyroid dyshormonogenesis 6 46 91 207 18 17 355
Inborn genetic diseases 5 3 143 8 0 159
not specified 0 0 49 12 19 79
DUOX2-related disorder 6 10 9 22 8 55
Familial thyroid dyshormonogenesis; Genetic transient congenital hypothyroidism 7 4 4 0 0 15
Congenital hypothyroidism 3 3 3 0 0 9
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 5
Familial thyroid dyshormonogenesis 2 1 0 0 0 3
See cases 0 1 2 0 0 3
Idiopathic basal ganglia calcification 1 0 0 1 0 0 1
Meckel syndrome, type 11 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 142 45 680 907 58 1832
Illumina Laboratory Services, Illumina 2 5 167 15 16 205
GeneDx 10 19 84 17 64 194
Ambry Genetics 5 3 143 8 0 159
Fulgent Genetics, Fulgent Genetics 28 57 13 2 0 100
Breakthrough Genomics, Breakthrough Genomics 1 0 10 22 46 79
PreventionGenetics, part of Exact Sciences 6 10 9 22 22 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 7 46 10 0 67
CeGaT Center for Human Genetics Tuebingen 3 3 15 15 6 42
Revvity Omics, Revvity 7 7 15 0 0 29
Juno Genomics, Hangzhou Juno Genomics, Inc 13 7 0 0 0 20
3billion 5 5 9 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 7 4 5 0 0 16
Clinical Genetics, Academic Medical Center 1 0 0 3 9 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 5 7 13
Genetics and Molecular Pathology, SA Pathology 3 4 3 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 2 4 0 0 9
Mendelics 2 0 2 0 2 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 5
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
OMIM 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 4 0 0 0 4
Baylor Genetics 1 1 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 2 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 3 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 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
New York Genome Center 0 0 2 0 0 2
Suma Genomics 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 1
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 1 0 0 0 0 1

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