ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.426-20A>G

gnomAD frequency: 0.01762  dbSNP: rs6744170
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249370 SCV000308852 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000662743 SCV000785522 benign Lynch syndrome 8 2017-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001723849 SCV001950525 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000662743 SCV004017454 benign Lynch syndrome 8 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723849 SCV005241304 benign not provided criteria provided, single submitter not provided

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.