ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)

dbSNP: rs794726718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038397 SCV001201864 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328666 SCV001519834 likely pathogenic Severe myoclonic epilepsy in infancy 2019-02-26 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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