ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)

dbSNP: rs797045817
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231384 SCV000248327 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003231384 SCV005415759 pathogenic Sotos syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM6_Supporting

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.