ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.19C>T (p.Arg7Cys) (rs80356994)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047676 SCV000075689 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130702 SCV000185589 likely benign Hereditary cancer-predisposing syndrome 2018-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000428757 SCV000515777 likely benign not specified 2017-04-12 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 Molecular Medicine,Queen's University RCV000428757 SCV000588021 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
Color RCV000130702 SCV000683006 likely benign Hereditary cancer-predisposing syndrome 2017-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758790 SCV000887632 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031021 SCV000053614 likely benign Breast-ovarian cancer, familial 1 2011-07-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031021 SCV000144046 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
True Health Diagnostics RCV000130702 SCV000805229 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 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.