ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.867C>A (p.Gly289=)

gnomAD frequency: 0.00017  dbSNP: rs267608047
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432637 SCV000515308 likely benign not specified 2016-01-05 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.
Color Diagnostics, LLC DBA Color Health RCV000580805 SCV000685524 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001438572 SCV001641449 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580805 SCV002536360 likely benign Hereditary cancer-predisposing syndrome 2020-11-28 criteria provided, single submitter curation
Ambry Genetics RCV000580805 SCV002685682 likely benign Hereditary cancer-predisposing syndrome 2022-02-28 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.
All of Us Research Program, National Institutes of Health RCV003995999 SCV004834823 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000897284 SCV001552158 uncertain significance 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.