ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)

gnomAD frequency: 0.00005  dbSNP: rs200176684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734751 SCV000242502 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29314583)
Eurofins Ntd Llc (ga) RCV000734751 SCV000862919 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing
Invitae RCV001408607 SCV001610609 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-11-27 criteria provided, single submitter clinical testing

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