ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-327del (rs869312779)

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
University of Washington Department of Laboratory Medicine, University of Washington RCV000210072 SCV000266126 pathogenic Cowden syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022136 SCV001183835 pathogenic Hereditary cancer-predisposing syndrome 2019-03-10 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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.