ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) (rs78324544)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720848 SCV000851732 uncertain significance Seizures 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000188203 SCV000241810 likely benign not specified 2013-01-31 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 RCV000638342 SCV000759838 likely benign Lafora disease 2017-12-08 criteria provided, single submitter clinical testing

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