ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466363 SCV002761318 likely pathogenic Developmental and epileptic encephalopathy, 13 2022-02-03 criteria provided, single submitter clinical testing

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