ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) (rs1800520)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116303 SCV000232056 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116303 SCV000303920 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710497 SCV000840732 benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Invitae RCV001271173 SCV001720461 benign Polyglandular autoimmune syndrome, type 1 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116303 SCV000150221 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001271173 SCV001452115 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 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.