ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.132G>A (p.Glu44=)

gnomAD frequency: 0.00003  dbSNP: rs781272663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002090368 SCV002321309 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-07-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985543 SCV004778865 likely benign SCN2A-related disorder 2022-05-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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