ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)

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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 RCV002466353 SCV002761308 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2022-02-03 criteria provided, single submitter clinical testing

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