ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2284-20G>A

dbSNP: rs200438791
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002198581 SCV002485854 likely benign EGFR-related lung cancer 2024-12-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248557 SCV005898423 benign Lung cancer 2024-10-16 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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.