ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) (rs771456995)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352529 SCV000456455 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404571 SCV000456456 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000865617 SCV001006611 likely 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.