ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.54G>A (p.Leu18=)

dbSNP: rs745679666
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594802 SCV000707941 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV003638684 SCV004537857 likely benign Alpha-1-antitrypsin deficiency 2022-12-21 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.