ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.93A>G (p.Thr31=)

dbSNP: rs2100834154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001682631 SCV004209270 likely pathogenic Leber congenital amaurosis 2 2023-05-10 criteria provided, single submitter clinical testing
Eye Genetics Research Group, Children's Medical Research Institute RCV001682631 SCV001905505 pathogenic Leber congenital amaurosis 2 2021-09-20 no assertion criteria provided clinical testing

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