ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) (rs150296373)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723570 SCV000114066 uncertain significance not provided 2012-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146810 SCV000194137 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000723570 SCV000527128 benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717116 SCV000847962 likely benign History of neurodevelopmental disorder 2016-10-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001088220 SCV001001873 benign Beckwith-Wiedemann syndrome 2019-12-31 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.