ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) (rs62645747)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986493 SCV001135505 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Rui Chen Lab,Baylor College of Medicine RCV000515691 SCV000579415 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250609 SCV001425477 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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