ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1253A>G (p.Asn418Ser)

dbSNP: rs1553568970
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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 RCV000640611 SCV000762205 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-08-12 criteria provided, single submitter clinical testing

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