ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) (rs55816687)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000043950 SCV000071963 benign Hereditary breast and ovarian cancer syndrome 2017-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000120312 SCV000108605 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.
Ambry Genetics RCV000131496 SCV000186485 likely benign Hereditary cancer-predisposing syndrome 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Subpopulation frequency in support of benign classification
Michigan Medical Genetics Laboratories,University of Michigan RCV000077272 SCV000195967 likely benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120312 SCV000591791 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679159 SCV000805666 likely benign not provided 2017-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120312 SCV000859227 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679159 SCV000885100 likely benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679159 SCV000889004 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Color RCV000131496 SCV000902740 benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
ITMI RCV000120312 SCV000084464 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000077272 SCV000109069 uncertain significance Breast-ovarian cancer, familial 2 2008-03-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077272 SCV000146011 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000077272 SCV000187737 likely benign Breast-ovarian cancer, familial 2 2014-12-11 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148430 SCV000190129 uncertain significance Neoplasm of the breast 2014-06-01 no assertion criteria provided research

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.