ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.414A>C (p.Pro138=)

dbSNP: rs777483146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002086442 SCV002420894 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2021-12-01 criteria provided, single submitter clinical testing

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