ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.[1067dup];[1543C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Vision Research, Yonsei University College of Medicine RCV001262110 SCV001371684 likely pathogenic Leber congenital amaurosis 2020-07-08 criteria provided, single submitter clinical testing

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