ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.[1991A>C];[2649del]

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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 RCV001262108 SCV001370893 likely pathogenic Leber congenital amaurosis 2020-07-07 criteria provided, single submitter clinical testing

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