ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=)

gnomAD frequency: 0.00014  dbSNP: rs377396450
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604557 SCV000719066 likely benign not specified 2017-05-02 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 RCV000871508 SCV001013179 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702812 SCV001929471 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702812 SCV001958362 likely benign not provided no assertion criteria provided clinical testing

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