ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) (rs1571848744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074569 SCV001240160 pathogenic Retinal dystrophy 2018-12-31 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002988 SCV001161042 likely pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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