ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=)

gnomAD frequency: 0.00001  dbSNP: rs753714341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002548343 SCV001117977 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000970401 SCV001874749 benign not provided 2015-04-02 criteria provided, single submitter clinical testing

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