ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) (rs140229717)

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
Ambry Genetics RCV000719308 SCV000850174 likely benign History of neurodevelopmental disorder 2016-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Genetic Services Laboratory, University of Chicago RCV000146843 SCV000194172 likely benign not specified 2014-11-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381738 SCV000456513 uncertain significance Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291870 SCV000456514 uncertain significance Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461000 SCV000558220 likely benign Beckwith-Wiedemann syndrome 2016-08-16 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.