ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) (rs201866631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV001002707 SCV001156363 pathogenic Usher syndrome, type 1G 2019-02-01 criteria provided, single submitter clinical testing
Center for Statistical Genetics, Columbia University RCV000679846 SCV000804837 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291495 SCV001479999 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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