ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)

dbSNP: rs1941787074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333728 SCV001526398 uncertain significance Developmental and epileptic encephalopathy, 13 2018-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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