ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2371-6A>G

gnomAD frequency: 0.00061  dbSNP: rs187002252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000194807 SCV000171584 benign not specified 2014-05-08 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) RCV000194807 SCV000226322 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194807 SCV000248827 likely benign not specified 2014-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000228268 SCV000289936 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-02 criteria provided, single submitter clinical testing

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