ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.652+14C>T

gnomAD frequency: 0.01242  dbSNP: rs41277546
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029315 SCV000051961 uncertain Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000029315 SCV000629957 benign Polyglandular autoimmune syndrome, type 1 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595668 SCV000706779 benign not specified 2017-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710496 SCV000840730 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000710496 SCV001756562 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173)
CeGaT Center for Human Genetics Tuebingen RCV000710496 SCV002544678 benign not provided 2024-08-01 criteria provided, single submitter clinical testing AIRE: BS1, BS2

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.