ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3566G>A (p.Gly1189Asp)

dbSNP: rs540994733
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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 RCV001047712 SCV001211691 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985475 SCV004790559 likely benign SCN2A-related disorder 2022-09-07 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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