ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.81C>G (p.Ala27=)

gnomAD frequency: 0.00001  dbSNP: rs781496151
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165210 SCV000215922 likely benign Hereditary cancer-predisposing syndrome 2014-08-01 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.
Invitae RCV000470046 SCV000561491 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507306 SCV000604269 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165210 SCV000690481 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001711336 SCV001945124 benign not provided 2015-06-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507306 SCV002547893 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000165210 SCV004014900 likely benign Hereditary cancer-predisposing syndrome 2023-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535108 SCV004720817 likely benign MSH6-related disorder 2019-06-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003995404 SCV004832343 likely benign Lynch syndrome 2023-06-26 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.