ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) (rs193922417)

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
Integrated Genetics/Laboratory Corporation of America RCV000029312 SCV000051958 likely pathogenic Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Blueprint Genetics RCV000788159 SCV000927181 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000788159 SCV001082910 likely benign not provided 2019-03-04 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.