ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3213T>C (p.Asp1071=)

gnomAD frequency: 0.00001  dbSNP: rs534232216
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 RCV001087759 SCV000283791 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584708 SCV000690329 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000615478 SCV000722829 likely benign not specified 2017-09-10 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.
PreventionGenetics, part of Exact Sciences RCV000679236 SCV000805882 likely benign not provided 2017-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584708 SCV002610368 likely benign Hereditary cancer-predisposing syndrome 2019-11-27 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.
All of Us Research Program, National Institutes of Health RCV003998728 SCV004834973 likely benign Lynch syndrome 2023-09-17 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.