ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=)

gnomAD frequency: 0.00001  dbSNP: rs763201344
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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) RCV000591449 SCV000702016 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV001498806 SCV001703559 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000591449 SCV001944475 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing

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