ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3837T>G (p.Ser1279=) (rs1057522493)

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
GeneDx RCV000440144 SCV000528078 likely benign not specified 2016-05-18 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.
Invitae RCV000534694 SCV000647479 likely benign Familial adenomatous polyposis 1 2017-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564787 SCV000667222 likely benign Hereditary cancer-predisposing syndrome 2016-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000564787 SCV000686953 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000440144 SCV000694027 likely benign not specified 2019-08-20 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.