ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)

gnomAD frequency: 0.00006  dbSNP: rs372372558
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656973 SCV000242503 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Eurofins Ntd Llc (ga) RCV000656973 SCV000337706 uncertain significance not provided 2015-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000686709 SCV000814238 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-04-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.