ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter)

dbSNP: rs1057520149
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000851498 SCV000994553 likely pathogenic Seizure; Intellectual disability 2017-07-25 criteria provided, single submitter clinical testing

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