ClinVar Miner

Submissions for variant NM_005121.3(MED13):c.5683_5684del (p.Met1895fs)

gnomAD frequency: 0.00001  dbSNP: rs750570850
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274480 SCV002559220 pathogenic Intellectual developmental disorder 61 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287533 SCV002577763 likely pathogenic See cases 2021-06-09 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002274480 SCV005417108 likely pathogenic Intellectual developmental disorder 61 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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.