ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) (rs4987050)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000212336 SCV000602891 likely benign not specified 2016-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000124030 SCV000212952 likely benign Hereditary cancer-predisposing syndrome 2014-07-22 criteria provided, single submitter clinical testing
Color RCV000124030 SCV000537409 likely benign Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
Counsyl RCV000411782 SCV000489929 likely benign Fanconi anemia, complementation group J 2016-08-12 criteria provided, single submitter clinical testing
Counsyl RCV000409837 SCV000489930 likely benign Neoplasm of ovary 2016-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000212336 SCV000167439 benign not specified 2013-11-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000337943 SCV000404570 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396456 SCV000404571 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000195846 SCV000253630 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679785 SCV000807145 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212336 SCV000600916 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679785 SCV000888002 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000124030 SCV000787969 likely benign Hereditary cancer-predisposing syndrome 2017-11-02 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.