ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.181_183del (p.Lys61del) (rs386834123)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000050116 SCV000023100 pathogenic Neuronal ceroid lipofuscinosis 8 2009-07-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050116 SCV000082526 probable-pathogenic Neuronal ceroid lipofuscinosis 8 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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