ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.461-279_677+384del (rs1555468632)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576750 SCV000678007 pathogenic Juvenile neuronal ceroid lipofuscinosis 2015-06-06 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505074 SCV000599206 likely pathogenic Retinitis pigmentosa no assertion criteria provided research

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