ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1065C>T (p.Pro355=)

gnomAD frequency: 0.00188  dbSNP: rs201551372
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000633449 SCV000754676 benign Polyglandular autoimmune syndrome, type 1 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091470 SCV001247537 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001091470 SCV001927101 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001091470 SCV001957296 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000633449 SCV002083886 likely benign Polyglandular autoimmune syndrome, type 1 2021-02-26 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.