ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=)

gnomAD frequency: 0.00002  dbSNP: rs1292645984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728308 SCV000855863 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV002067085 SCV002394795 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-04-01 criteria provided, single submitter clinical testing

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