ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.208T>G (p.Phe70Val)

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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 RCV003466254 SCV004209290 pathogenic Leber congenital amaurosis 2 2022-10-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818348 SCV005072001 uncertain significance Retinal dystrophy 2009-01-01 criteria provided, single submitter clinical testing

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