ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.424C>T (p.Leu142=) (rs20546)

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
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000405780 SCV000608316 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405780 SCV000389654 likely benign Alpha-1-antitrypsin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000405780 SCV000630390 benign Alpha-1-antitrypsin deficiency 2017-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155575 SCV000205277 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu142Leu in exon 4 of SERPINA1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2.4% (204/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs20546).
PreventionGenetics RCV000155575 SCV000303521 benign not specified 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.