ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) (rs55919657)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755877 SCV000883520 benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162634 SCV000213070 likely benign Hereditary cancer-predisposing syndrome 2014-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000461568 SCV000541069 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112912 SCV000145858 benign Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000252883 SCV000586926 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162634 SCV000683417 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000112912 SCV000488181 likely benign Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000252883 SCV000591738 benign not specified 2012-12-28 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112912 SCV000578014 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0041 (East Asian), derived from ExAC (2014-12-17).
Genetic Services Laboratory, University of Chicago RCV000252883 SCV000593702 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing
Invitae RCV000167811 SCV000071801 benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000252883 SCV000301754 benign not specified 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.