ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) (rs150412614)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075564 SCV001241191 pathogenic Retinal dystrophy 2019-01-03 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000786007 SCV000924647 pathogenic Early-onset retinal dystrophy 2017-12-13 no assertion criteria provided research
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002994 SCV001161048 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250600 SCV001425468 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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