ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6085_6089del (p.Glu2029fs)

dbSNP: rs886040635
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257433 SCV000324418 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Medical Genetics, Oslo University Hospital RCV000257433 SCV000605635 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-07-01 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496645 SCV000587825 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
BRCAlab, Lund University RCV000257433 SCV004243701 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 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.