ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.202C>T (p.His68Tyr)

dbSNP: rs61752866
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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 RCV003466999 SCV004209230 likely pathogenic Leber congenital amaurosis 2 2023-09-27 criteria provided, single submitter clinical testing
Retina International RCV000085179 SCV000117316 not provided not provided no assertion provided not provided

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