ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) (rs878853350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000225657 SCV001239377 pathogenic Retinal dystrophy 2018-04-18 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225657 SCV000282554 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003018 SCV001161073 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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