ClinVar Miner

Variants in gene DUOX2

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

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
173 156 1117 991 115 27 2354

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 156 75 858 964 113 0 2097
Thyroid dyshormonogenesis 6 51 96 209 18 16 1 364
Inborn genetic diseases 5 4 225 13 0 0 247
not specified 0 0 57 19 23 0 99
DUOX2-related disorder 6 10 9 22 8 0 55
Congenital hypothyroidism 5 4 7 2 0 0 18
Thyroid dyshormonogenesis 6; Familial thyroid dyshormonogenesis 7 4 4 0 0 0 15
Gastric cancer 0 0 0 0 0 6 6
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 0 5
Malignant tumor of esophagus 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Colon adenocarcinoma 0 0 0 0 0 3 3
Familial thyroid dyshormonogenesis 2 1 0 0 0 0 3
See cases 0 1 2 0 0 0 3
Cervical cancer 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Meckel syndrome, type 11 0 0 0 1 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 151 50 788 932 58 0 1979
Ambry Genetics 5 4 225 13 0 0 247
GeneDx 13 19 93 16 64 0 205
Illumina Laboratory Services, Illumina 2 5 161 15 15 0 198
Fulgent Genetics, Fulgent Genetics 28 57 13 2 0 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 54 17 0 0 84
Breakthrough Genomics, Breakthrough Genomics 1 0 10 21 46 0 78
PreventionGenetics, part of Exact Sciences 6 10 9 22 22 0 69
CeGaT Center for Human Genetics Tuebingen 4 3 19 19 5 0 50
Revvity Omics, Revvity 7 9 18 0 0 0 34
Mayo Clinic Laboratories, Mayo Clinic 1 0 7 3 19 0 30
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 26 26
3billion 8 5 10 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 15 7 0 0 0 0 22
Department of Pathology and Laboratory Medicine, Sinai Health System 7 4 5 0 0 0 16
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 1 7 2 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 4 7 0 12
Clinical Genetics, Academic Medical Center 1 0 0 3 8 0 12
Genetics and Molecular Pathology, SA Pathology 3 4 3 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 2 4 0 0 0 9
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 6 0 0 0 0 7
Mendelics 2 0 2 0 2 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 4 0 5
Genetic Services Laboratory, University of Chicago 2 2 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 4 0 0 0 0 4
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 3 0 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 0 0 0 4
OMIM 4 0 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
Baylor Genetics 1 1 1 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 1 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Polak associated Lab, IMAGINE Institute 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 1 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Eurofins Ntd Llc (ga) 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 0 2
OLLIN Analises Genomicas, OLLIN 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1

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