ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

dbSNP: rs780721021
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502553 SCV000593751 uncertain significance not specified 2015-10-23 criteria provided, single submitter clinical testing
Invitae RCV000812649 SCV000952969 likely benign Hereditary breast ovarian cancer syndrome 2022-10-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985565 SCV001133863 uncertain significance not provided 2019-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502553 SCV001361754 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367683 SCV002658593 likely benign Hereditary cancer-predisposing syndrome 2022-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.