ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.840A>G (p.Gln280=)

gnomAD frequency: 0.00004  dbSNP: rs377200041
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537385 SCV000639649 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311838 SCV004011220 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SCN2A: BP4, BP7

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