ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1692C>T (p.Ser564=)

gnomAD frequency: 0.00004  dbSNP: rs368959256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864779 SCV001005634 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-06-24 criteria provided, single submitter clinical testing

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