ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=)

gnomAD frequency: 0.00001  dbSNP: rs370793418
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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) RCV000596741 SCV000703753 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing
Invitae RCV001490612 SCV001695181 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-08-23 criteria provided, single submitter clinical testing

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