ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.15C>T (p.Ser5=) (rs374597781)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443338 SCV000512650 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000474324 SCV000560191 likely benign Neuronal ceroid lipofuscinosis 2016-05-24 criteria provided, single submitter clinical testing

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