ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) (rs80356851)

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
Ambry Genetics RCV000129198 SCV000183942 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000464391 SCV000540975 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111944 SCV000144554 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Color RCV000129198 SCV000683065 benign Hereditary cancer-predisposing syndrome 2015-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000111944 SCV000221149 likely benign Breast-ovarian cancer, familial 1 2015-02-21 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111944 SCV000744644 likely benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173847 SCV000225008 benign not specified 2014-07-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111944 SCV000244744 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000173847 SCV000167285 benign not specified 2014-03-05 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000111944 SCV000745679 likely benign Breast-ovarian cancer, familial 1 2017-04-24 no assertion criteria provided clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000167841 SCV000576442 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000167841 SCV000075992 benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111944 SCV000195912 benign Breast-ovarian cancer, familial 1 2016-04-21 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.