ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=)

gnomAD frequency: 0.00001  dbSNP: rs776618474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420630 SCV000529181 likely benign not specified 2016-06-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000942189 SCV001088109 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-08-16 criteria provided, single submitter clinical testing

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