ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.588C>T (p.Ser196=)

gnomAD frequency: 0.18544  dbSNP: rs878081
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116301 SCV000303918 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116301 SCV000612311 benign not specified 2012-07-27 criteria provided, single submitter clinical testing
Invitae RCV001271172 SCV001729974 benign Polyglandular autoimmune syndrome, type 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271172 SCV001761836 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001682802 SCV001902328 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000116301 SCV004102412 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 29% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.
Genetic Services Laboratory, University of Chicago RCV000116301 SCV000150219 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. RCV001271172 SCV001452109 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116301 SCV001743173 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116301 SCV001929988 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116301 SCV001958629 benign not specified 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.