ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) (rs377145777)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412375 SCV000487583 likely pathogenic Usher syndrome, type 1C 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000409966 SCV000487584 likely pathogenic Deafness, autosomal recessive 18 2016-11-02 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291494 SCV001479998 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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