ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) (rs1553273330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669141 SCV000793857 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073245 SCV001238781 pathogenic Retinal dystrophy 2018-08-29 criteria provided, single submitter clinical testing

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