ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)

dbSNP: rs528718802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723923 SCV000203526 uncertain significance not provided 2014-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000153911 SCV000723031 likely benign not specified 2017-09-19 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 RCV002056044 SCV002351805 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-21 criteria provided, single submitter clinical testing

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