ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)

dbSNP: rs794726849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180980 SCV000221963 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research

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