ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1686G>A (p.Lys562=)

gnomAD frequency: 0.00001  dbSNP: rs764350935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698488 SCV000727902 likely benign not provided 2020-06-02 criteria provided, single submitter clinical testing
Invitae RCV001415200 SCV001617350 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-18 criteria provided, single submitter clinical testing

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