ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.419AGA[1] (p.Lys141del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795807 SCV005418059 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 criteria provided, single submitter clinical testing PM2_Supporting+PM4

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