ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=)

gnomAD frequency: 0.00005  dbSNP: rs2227899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719082 SCV000728743 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767728 SCV004576241 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-08-17 criteria provided, single submitter clinical testing

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