ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280276 SCV002568289 likely pathogenic Intellectual disability, autosomal dominant 1 2022-04-20 criteria provided, single submitter clinical testing PVS1 PM2

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.