ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp)

dbSNP: rs397517086
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038375 SCV000062047 pathogenic Non-small cell lung carcinoma 2011-06-15 criteria provided, single submitter clinical testing The Glu709_Thr710delinsAsp variant has been previously reported as a somatic variant in the literature in several individuals with lung adenocarcinoma (Reinmuth 2008, COSMIC). TKI response was not evaluated in these individuals.

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.