ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) (rs1801426)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 31
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414645 SCV000492484 uncertain significance Neoplasm of the breast criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034426 SCV000602768 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130982 SCV000185899 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000460200 SCV000541023 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034426 SCV000043241 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112853 SCV000145770 uncertain significance Breast-ovarian cancer, familial 2 2013-02-05 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769708 SCV000901127 benign Breast and/or ovarian cancer 2015-07-10 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120373 SCV000586996 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034426 SCV000511440 benign not provided 2016-06-28 criteria provided, single submitter clinical testing
Color RCV000130982 SCV000537369 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000112853 SCV000154054 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112853 SCV000744797 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120373 SCV000592321 benign not specified 2012-02-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112853 SCV000733345 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120373 SCV000202310 benign not specified 2015-03-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112853 SCV000245314 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02972 (Asian), 0.126 (African), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000112853 SCV000575738 likely benign Breast-ovarian cancer, familial 2 2015-09-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112853 SCV000743531 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120373 SCV000084525 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000361728 SCV000383811 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267039 SCV000383812 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000267039 SCV000494298 benign Hereditary breast and ovarian cancer syndrome 2014-01-13 criteria provided, single submitter clinical testing
Invitae RCV000267039 SCV000560423 benign Hereditary breast and ovarian cancer syndrome 2017-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120373 SCV000538466 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034426 SCV000778729 benign not provided 2016-12-19 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112853 SCV000196032 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120373 SCV000301751 likely benign not specified criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120373 SCV000588020 benign not specified 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000112853 SCV000189292 benign Breast-ovarian cancer, familial 2 2011-03-14 no assertion criteria provided clinical testing
True Health Diagnostics RCV000130982 SCV000787916 benign Hereditary cancer-predisposing syndrome 2018-03-02 no assertion criteria provided clinical testing
Vantari Genetics RCV000130982 SCV000267029 benign Hereditary cancer-predisposing syndrome 2016-01-06 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.