ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.702G>A (p.Lys234=) (rs45512798)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162759 SCV000213236 likely benign Hereditary cancer-predisposing syndrome 2014-08-12 criteria provided, single submitter clinical testing
Color RCV000162759 SCV000537505 likely benign Hereditary cancer-predisposing syndrome 2015-11-30 criteria provided, single submitter clinical testing
Counsyl RCV000409036 SCV000489921 likely benign Fanconi anemia, complementation group J 2016-08-09 criteria provided, single submitter clinical testing
Counsyl RCV000410619 SCV000489922 likely benign Neoplasm of ovary 2016-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000421741 SCV000516741 benign not specified 2015-06-12 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.
Invitae RCV000232319 SCV000291056 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759715 SCV000889223 likely benign not provided 2018-02-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162759 SCV000805255 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 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.