ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.180G>A (p.Glu60=) (rs376861118)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167287 SCV000218130 likely benign Hereditary cancer-predisposing syndrome 2014-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000232828 SCV000285942 likely benign MYH-associated polyposis 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000232828 SCV000487324 likely benign MYH-associated polyposis 2015-12-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000167287 SCV000685605 likely benign Hereditary cancer-predisposing syndrome 2017-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000609814 SCV000732202 likely benign not specified 2017-02-15 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.

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.