ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)

gnomAD frequency: 0.00002  dbSNP: rs767138285
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 RCV000727525 SCV000570756 likely benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727525 SCV000709472 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV001061676 SCV001226426 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-12-12 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.