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
14 16 91 19 16 142

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital hypothyroidism 0 0 71 16 4 91
Thyroid dyshormonogenesis 6 8 9 9 0 4 27
not provided 9 8 10 0 2 27
not specified 0 0 3 3 14 19
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 5
Familial thyroid dyshormonogenesis 2 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 5 78 16 4 105
GeneDx 4 8 12 2 0 26
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 1 0 0 0 3
Invitae 3 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 2 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 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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