ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=)

gnomAD frequency: 0.00001  dbSNP: rs753890879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180563 SCV000233029 uncertain significance not provided 2014-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515297 SCV003457567 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-08-05 criteria provided, single submitter clinical testing

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