ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.326-11A>G

dbSNP: rs1555943503
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
Ambry Genetics RCV000623700 SCV000742723 likely pathogenic Inborn genetic diseases 2017-08-16 criteria provided, single submitter clinical testing
OMIM RCV001798931 SCV000032662 pathogenic Coffin-Lowry syndrome 2002-06-01 no assertion criteria provided literature only

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.