ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3697G>T (p.Glu1233Ter) (rs1057519617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille RCV000418127 SCV000299282 pathogenic Mental retardation, autosomal dominant 2015-03-16 no assertion criteria provided clinical testing Global developmental delay without seizures

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