ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1473T>G (p.Ser491=)

gnomAD frequency: 0.00001  dbSNP: rs1427996432
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869331 SCV001010748 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-05-30 criteria provided, single submitter clinical testing
GeneDx RCV001593086 SCV001823719 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing

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