ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=)

gnomAD frequency: 0.00006  dbSNP: rs138143967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718869 SCV000514517 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000470756 SCV000562140 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-08-01 criteria provided, single submitter clinical testing

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