ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)

gnomAD frequency: 0.00001  dbSNP: rs199643502
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165568 SCV000216302 likely benign Hereditary cancer-predisposing syndrome 2014-08-21 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.
Counsyl RCV000409683 SCV000489406 likely benign Lynch syndrome 5 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV000456153 SCV000551079 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165568 SCV000690327 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532965 SCV001748787 likely benign not specified 2021-07-03 criteria provided, single submitter clinical testing
GeneDx RCV001356614 SCV001940730 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409683 SCV004018920 benign Lynch syndrome 5 2023-03-28 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001356614 SCV004221212 likely benign not provided 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995432 SCV004842794 likely benign Lynch syndrome 2023-07-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356614 SCV001551830 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.