ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=)

dbSNP: rs748739874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192878 SCV000248805 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517976 SCV002938180 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-10-01 criteria provided, single submitter clinical testing

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