ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)

dbSNP: rs121917963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818870 SCV000959506 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002054912 SCV002496544 likely pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059403 SCV000090927 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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