ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) (rs373932824)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082142 SCV000114088 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146950 SCV000194283 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515435 SCV000611495 uncertain significance Beckwith-Wiedemann syndrome; Sotos syndrome 1 2017-05-23 criteria provided, single submitter clinical testing
Mendelics RCV000146950 SCV001137040 uncertain significance Sotos syndrome 1 2019-05-28 criteria provided, single submitter 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.