ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001194615 SCV001364272 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2020-02-19 no assertion criteria provided clinical testing

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