ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=)

gnomAD frequency: 0.00001  dbSNP: rs141269163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192405 SCV000248802 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001449173 SCV001652282 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-07-11 criteria provided, single submitter clinical testing

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