ClinVar Miner

Submissions for variant NM_014080.4(DUOX2):c.4171C>G (p.Pro1391Ala) (rs771198569)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000364563 SCV000391342 uncertain significance Congenital hypothyroidism 2016-06-14 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics,University of Washington RCV000755101 SCV000882919 likely pathogenic Nongoitrous Euthyroid Hyperthyrotropinemia 2017-01-01 no assertion criteria provided research

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