ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=)

gnomAD frequency: 0.00009  dbSNP: rs371704720
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001083555 SCV000639639 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-07-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000554277 SCV001152495 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing

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