ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2667C>G (p.Ser889=)

gnomAD frequency: 0.00001  dbSNP: rs561680100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001579453 SCV000513666 likely benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Invitae RCV000556247 SCV000625404 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566069 SCV000662245 likely benign Hereditary cancer-predisposing syndrome 2017-05-10 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 RCV000566069 SCV000685069 likely benign Hereditary cancer-predisposing syndrome 2016-09-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150200 SCV003838310 likely benign Breast and/or ovarian cancer 2022-03-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001579453 SCV004220992 likely benign not provided 2023-06-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995968 SCV004826598 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579453 SCV001807317 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579453 SCV001923141 likely benign not provided 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.