ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1228del (p.Ser410fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691631 SCV004543788 pathogenic Leber congenital amaurosis 2 2024-02-01 no assertion criteria provided clinical testing

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