ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.595C>T (p.Leu199=) (rs144969738)

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
Ambry Genetics RCV000215945 SCV000274260 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV001082446 SCV000291053 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000409950 SCV000490079 likely benign Fanconi anemia, complementation group J 2016-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000411438 SCV000490080 likely benign Neoplasm of ovary 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000601018 SCV000726980 likely benign not specified 2018-01-19 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000215945 SCV000747817 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000230450 SCV001134034 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Color RCV000215945 SCV001358853 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000601018 SCV001361205 likely benign not specified 2019-06-20 criteria provided, single submitter 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.