ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3471G>A (p.Glu1157=) (rs143927847)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128969 SCV000172852 benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000128969 SCV000681608 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000077989 SCV000591144 benign not specified 2012-11-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077989 SCV000109821 benign not specified 2013-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000077989 SCV000167006 benign not specified 2014-01-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000353083 SCV000452007 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000195873 SCV000252585 benign Familial adenomatous polyposis 1 2018-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000077989 SCV000691736 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000077989 SCV000805396 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128969 SCV000693479 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 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.