ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1028+1G>A

dbSNP: rs863225030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986908 SCV001136061 pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV002275232 SCV002562847 likely pathogenic Seizure no assertion criteria provided clinical testing

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