ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.999-10_999-9del

dbSNP: rs2100817210
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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 RCV001468236 SCV001672276 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-11-22 criteria provided, single submitter clinical testing

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