ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)

gnomAD frequency: 0.00001  dbSNP: rs915676341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636278 SCV000757717 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-14 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089689 SCV001245172 likely pathogenic Severe myoclonic epilepsy in infancy 2020-02-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001706692 SCV001934245 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2020-10-15 criteria provided, single submitter clinical testing

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