ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.280C>T (p.Leu94=)

dbSNP: rs1330621664
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 RCV000571139 SCV000669842 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001433571 SCV001636362 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-10-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001040 SCV004826261 likely benign Lynch syndrome 2023-05-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248284 SCV005898678 benign Lynch syndrome 1 2024-12-03 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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.