ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro)

dbSNP: rs1699353976
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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 RCV001030999 SCV001160785 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2019-12-11 criteria provided, single submitter research ACMG evidence PS2, PM2, PP2, PP3

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