ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1908C>T (p.Ser636=)

gnomAD frequency: 0.00001  dbSNP: rs1053543226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000866941 SCV000715870 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV001447368 SCV001650431 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000866941 SCV004132905 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SCN8A: BP4, BP7

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