ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.4189C>G (p.Gln1397Glu) (rs749340561)

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 RCV000621830 SCV000737821 uncertain significance Cardiovascular phenotype 2016-12-02 criteria provided, single submitter clinical testing Insufficient evidence
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477859 SCV000536732 uncertain significance Long QT syndrome 11 2015-08-20 no assertion criteria provided research

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.