ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3264C>T (p.Phe1088=)

gnomAD frequency: 0.00008  dbSNP: rs35621414
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 RCV000212681 SCV000211360 benign not specified 2014-08-08 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 RCV000160726 SCV000214210 likely benign Hereditary cancer-predisposing syndrome 2014-12-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080678 SCV000561514 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160726 SCV000685380 likely benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759141 SCV000888269 benign not provided 2019-06-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212681 SCV002064752 likely benign not specified 2020-10-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160726 SCV002528001 likely benign Hereditary cancer-predisposing syndrome 2020-12-15 criteria provided, single submitter curation

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.