ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)

gnomAD frequency: 0.00005  dbSNP: rs375084663
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217129 SCV000274223 likely benign Hereditary cancer-predisposing syndrome 2015-02-25 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 RCV001087874 SCV000557596 likely benign Familial adenomatous polyposis 2 2025-01-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731866 SCV000859728 uncertain significance not provided 2018-02-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000217129 SCV000906015 likely benign Hereditary cancer-predisposing syndrome 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000731866 SCV001940757 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000731866 SCV002046526 likely benign not provided 2020-12-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001087874 SCV004843429 likely benign Familial adenomatous polyposis 2 2023-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541347 SCV004761893 likely benign MUTYH-related disorder 2019-11-15 no assertion criteria provided 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).

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.