ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) (rs80358731)

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
Invitae RCV001081347 SCV000072565 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130358 SCV000185209 likely benign Hereditary cancer-predisposing syndrome 2019-03-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with mutation in same gene (phase unknown)
GeneDx RCV000430752 SCV000526371 likely benign not specified 2017-08-18 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000430752 SCV000591939 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590213 SCV000694827 benign not provided 2016-03-21 criteria provided, single submitter clinical testing
Counsyl RCV000031527 SCV000786230 likely benign Breast-ovarian cancer, familial 2 2018-03-23 criteria provided, single submitter clinical testing
Color RCV000130358 SCV000902797 likely benign Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590213 SCV001133816 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031527 SCV000054132 likely benign Breast-ovarian cancer, familial 2 2012-03-05 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031527 SCV000146533 uncertain significance Breast-ovarian cancer, familial 2 2001-02-16 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.