ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)

gnomAD frequency: 0.00001  dbSNP: rs730881820
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 RCV000160730 SCV000211364 benign not specified 2014-10-03 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.
Ambry Genetics RCV000492002 SCV000580284 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160730 SCV000601583 uncertain significance not specified 2017-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548816 SCV000624901 benign Hereditary nonpolyposis colorectal neoplasms 2023-12-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000492002 SCV000690385 likely benign Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149979 SCV003837655 likely benign Breast and/or ovarian cancer 2023-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998516 SCV004835112 likely benign Lynch syndrome 2023-04-03 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.