ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=)

gnomAD frequency: 0.00006  dbSNP: rs550579591
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602350 SCV000719140 likely benign not specified 2017-05-04 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.
Eurofins Ntd Llc (ga) RCV000734021 SCV000862132 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001463881 SCV001667832 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-04 criteria provided, single submitter clinical testing

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