ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5385C>T (p.Phe1795=)

gnomAD frequency: 0.00001  dbSNP: rs748215769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704447 SCV000530226 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing
Invitae RCV002522413 SCV003480591 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-08-22 criteria provided, single submitter clinical testing

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