ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) (rs898430789)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670864 SCV000795776 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-17 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074026 SCV001239593 uncertain significance Retinal dystrophy 2018-10-31 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003285 SCV001161368 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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