ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.393A>C (p.Val131=) (rs752488540)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165606 SCV000216340 likely benign Hereditary cancer-predisposing syndrome 2014-09-05 criteria provided, single submitter clinical testing
Color RCV000165606 SCV000685465 likely benign Hereditary cancer-predisposing syndrome 2016-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000411802 SCV000488237 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000444297 SCV000513676 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000199936 SCV000252630 benign Hereditary nonpolyposis colon cancer 2017-10-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759146 SCV000888283 benign not provided 2017-11-20 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.