ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) (rs140814100)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596635 SCV000708927 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000148880 SCV000796829 uncertain significance Alpha-1-antitrypsin deficiency 2018-01-08 criteria provided, single submitter clinical testing
OMIM RCV000019570 SCV000039867 other PI Z(WREXHAM) 2016-07-15 no assertion criteria provided literature only
CSER _CC_NCGL, University of Washington RCV000148880 SCV000190624 uncertain significance Alpha-1-antitrypsin deficiency 2014-06-01 no assertion criteria provided research
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000148880 SCV000608303 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided 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.