ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) (rs62645754)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000086304 SCV000118450 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002989 SCV001161043 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250593 SCV001425461 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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