ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8042C>T (p.Pro2681Leu) (rs182456139)

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
Invitae RCV000122805 SCV000166062 likely benign Familial adenomatous polyposis 1 2017-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132395 SCV000187487 likely benign Hereditary cancer-predisposing syndrome 2018-02-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,No disease association in appropriately sized case-control study(ies)
GeneDx RCV000235943 SCV000293019 likely benign not specified 2017-09-26 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.
Color RCV000132395 SCV000681905 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679087 SCV000805474 uncertain significance not provided 2016-12-16 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.