ClinVar Miner

Submissions for variant NM_007363.5(NONO):c.457C>T (p.Arg153Ter)

dbSNP: rs2031389522
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV001034531 SCV001190086 pathogenic Syndromic X-linked intellectual disability 34 2019-07-01 criteria provided, single submitter clinical testing De novo change identified in a miscarried fetus with hypertelorism, retrognathia, low set ears, cardiomegaly, pulmonary stenosis and bilateral renal agenesis.

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.