ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)

gnomAD frequency: 0.00042  dbSNP: rs373425206
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212692 SCV000211366 benign not specified 2014-08-29 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 RCV000160731 SCV000213897 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 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 RCV001084183 SCV000261398 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-28 criteria provided, single submitter clinical testing
Counsyl RCV000409788 SCV000488676 likely benign Lynch syndrome 5 2016-05-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160731 SCV000685468 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212692 SCV000917749 likely benign not specified 2020-07-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000205020 SCV001134447 benign not provided 2019-04-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212692 SCV002066747 likely benign not specified 2022-01-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160731 SCV002536301 likely benign Hereditary cancer-predisposing syndrome 2021-04-05 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000409788 SCV004018870 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.
All of Us Research Program, National Institutes of Health RCV003998517 SCV004835174 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000160731 SCV000788054 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 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.