ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) (rs121908292)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002677 SCV000485545 likely pathogenic Neuronal ceroid lipofuscinosis 5 2015-12-31 criteria provided, single submitter clinical testing
OMIM RCV000002677 SCV000022835 pathogenic Neuronal ceroid lipofuscinosis 5 2008-09-01 no assertion criteria provided literature only

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