ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.147T>C (p.Thr49=)

gnomAD frequency: 0.00002  dbSNP: rs190508047
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
PreventionGenetics, part of Exact Sciences RCV000679433 SCV000806374 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing
Invitae RCV000123182 SCV000166487 likely benign Lynch syndrome 2014-11-06 no assertion criteria provided clinical testing

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.