ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.644-2A>T

dbSNP: rs61752891
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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 RCV003467001 SCV004209242 pathogenic Leber congenital amaurosis 2 2023-08-29 criteria provided, single submitter clinical testing
Retina International RCV000085214 SCV000117351 not provided not provided no assertion provided not provided

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