ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)

gnomAD frequency: 0.00007  dbSNP: rs142545002
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
Invitae RCV001516938 SCV001725312 benign Intellectual disability, X-linked 1 2024-01-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001516938 SCV003815648 uncertain significance Intellectual disability, X-linked 1 2022-02-23 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.