ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3991G>T (p.Gly1331Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001031009 SCV001160801 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2019-12-11 criteria provided, single submitter research ACMG evidence PVS1, PS2, PM2, PP3

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