ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) (rs56091799)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120380 SCV000602790 likely benign not specified 2016-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131721 SCV000186761 benign Hereditary cancer-predisposing syndrome 2014-07-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077263 SCV000146300 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131721 SCV000683442 likely benign Hereditary cancer-predisposing syndrome 2015-10-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724406 SCV000228763 uncertain significance not provided 2014-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000120380 SCV000210659 likely benign not specified 2018-01-16 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.
ITMI RCV000120380 SCV000084532 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000167801 SCV000071888 benign Hereditary breast and ovarian cancer syndrome 2018-01-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724406 SCV000887757 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077263 SCV000109060 likely benign Breast-ovarian cancer, familial 2 2009-10-22 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.