ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) (rs80358904)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225748 SCV000073060 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000045047 SCV000210635 likely benign not specified 2017-12-04 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.
Ambry Genetics RCV000162802 SCV000213283 likely benign Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Counsyl RCV000077383 SCV000785846 uncertain significance Breast-ovarian cancer, familial 2 2017-12-27 criteria provided, single submitter clinical testing
Color RCV000162802 SCV000910872 benign Hereditary cancer-predisposing syndrome 2016-05-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077383 SCV000109180 likely benign Breast-ovarian cancer, familial 2 2012-11-30 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077383 SCV000146930 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 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.