ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.800T>C (p.Leu267Ser) (rs878853250)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lyon Laboratory, Cold Spring Harbor Laboratory RCV000225160 SCV000282046 pathogenic Global developmental delay; Developmental regression; Developmental stagnation at onset of seizures; Generalized tonic seizures; Intellectual disability, severe; Epileptic encephalopathy no assertion criteria provided clinical testing

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