ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)

gnomAD frequency: 0.00001  dbSNP: rs121918763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188821 SCV000242450 benign not specified 2015-01-14 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.
Genetic Services Laboratory, University of Chicago RCV000188821 SCV000248796 uncertain significance not specified 2014-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430872 SCV001633620 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-04-27 criteria provided, single submitter clinical testing

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