ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3693C>T (p.Tyr1231=)

gnomAD frequency: 0.00001  dbSNP: rs1559395351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470096 SCV001674187 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-09-06 criteria provided, single submitter clinical testing

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