ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465380 SCV002760042 pathogenic Leber congenital amaurosis 2 2022-11-29 criteria provided, single submitter research

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