ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.169dup (p.Glu57fs) (rs121913319)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078911 SCV000110771 pathogenic not provided 2013-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492387 SCV000580943 pathogenic Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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.