ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.459C>T (p.Ser153=) (rs63751065)

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
Ambry Genetics RCV000165961 SCV000216718 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000524409 SCV000253158 likely benign not provided 2019-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000423183 SCV000515456 likely benign not specified 2017-08-03 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.
Counsyl RCV000662573 SCV000785183 likely benign Lynch syndrome I 2017-05-25 criteria provided, single submitter clinical testing
Color RCV000165961 SCV000910944 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 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.