ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)

dbSNP: rs1574214843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986902 SCV001136052 uncertain significance Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV002275196 SCV002562860 uncertain significance Seizure no assertion criteria provided clinical testing

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