ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)

gnomAD frequency: 0.00001  dbSNP: rs1177406324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734748 SCV000862916 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734748 SCV001152492 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000734748 SCV001758264 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535393 SCV002936278 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-06-05 criteria provided, single submitter clinical testing

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