ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)

dbSNP: rs1193631220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986326 SCV001135299 pathogenic Leber congenital amaurosis 2 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000986326 SCV004209222 likely pathogenic Leber congenital amaurosis 2 2023-10-10 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000986326 SCV001425570 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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