ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2853C>A (p.Leu951=)

dbSNP: rs876658525
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
Invitae RCV000550012 SCV000624794 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562587 SCV000673953 likely benign Hereditary cancer-predisposing syndrome 2016-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000562587 SCV001734269 likely benign Hereditary cancer-predisposing syndrome 2020-10-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000562587 SCV002535771 likely benign Hereditary cancer-predisposing syndrome 2021-06-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478108 SCV004221194 likely benign not provided 2023-01-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003683 SCV004836365 likely benign Lynch syndrome 2023-07-10 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.