ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)

dbSNP: rs759662695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141768 SCV003819329 pathogenic not provided 2023-01-24 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000786008 SCV000924648 pathogenic Early-onset retinal dystrophy 2017-12-13 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250630 SCV001425501 likely pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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