ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) (rs199644078)

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
Genetic Services Laboratory, University of Chicago RCV000515153 SCV000152173 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445403 SCV000537094 benign Monogenic diabetes 2018-08-14 criteria provided, single submitter research ACMG criteria: BA1 (2.8% in gnomAD African)= benign (REVEL score 0.221 + PP3 (3 predictors) + BP4 (8 predictors)= conflicting evidence, not using)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000117899 SCV000610490 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Mendelics RCV000988972 SCV001138927 likely benign Maturity-onset diabetes of the young type 4 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000515153 SCV001476619 benign not specified 2019-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000117899 SCV001847059 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11270685, 27884173, 24097065)

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.