ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.387G>A (p.Ala129=) (rs876658275)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220844 SCV000273302 likely benign Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing
Invitae RCV000459024 SCV000562213 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000220844 SCV000904846 likely benign Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001193968 SCV001363164 likely benign not specified 2019-10-19 criteria provided, single submitter 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.