ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) (rs4986845)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 17
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) RCV000031035 SCV000244315 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000000000317
Invitae RCV000857439 SCV000075752 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000173845 SCV000167251 benign not specified 2014-01-14 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.
CSER_CC_NCGL; University of Washington Medical Center RCV000148398 SCV000190097 likely benign Malignant tumor of prostate 2014-06-01 criteria provided, single submitter research
Ambry Genetics RCV000162975 SCV000213463 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000031035 SCV000220269 benign Breast-ovarian cancer, familial 1 2014-04-25 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173845 SCV000225006 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167793 SCV000494350 benign Hereditary breast and ovarian cancer syndrome 2014-02-23 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000167793 SCV000576444 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173845 SCV000591371 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Color RCV000162975 SCV000683016 likely benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173845 SCV000806911 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031035 SCV000053629 likely benign Breast-ovarian cancer, familial 1 2008-08-11 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031035 SCV000144316 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000173845 SCV000587192 benign not specified 2014-01-31 no assertion criteria provided research
True Health Diagnostics RCV000162975 SCV000787896 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735455 SCV000863592 likely benign Breast and/or ovarian cancer 2013-09-16 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.