ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1613G>A (p.Arg538His)

gnomAD frequency: 0.00001  dbSNP: rs761203730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189216 SCV000242848 likely benign not provided 2019-06-20 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001052227 SCV001216427 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-12-04 criteria provided, single submitter clinical testing

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