ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV002574760 SCV002822868 likely pathogenic Developmental and epileptic encephalopathy, 13 2023-01-04 criteria provided, single submitter clinical testing

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