ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) (rs70953664)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120327 SCV000602745 benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162766 SCV000213243 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113286 SCV000146394 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162766 SCV000683605 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000113286 SCV000220272 benign Breast-ovarian cancer, familial 2 2014-04-25 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113286 SCV000744453 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120327 SCV000591896 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120327 SCV000202286 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113286 SCV000245031 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 0.0122 (African), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000113286 SCV000575755 likely benign Breast-ovarian cancer, familial 2 2016-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120327 SCV000593716 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
ITMI RCV000120327 SCV000084479 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000167832 SCV000383695 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346290 SCV000383696 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167832 SCV000494351 benign Hereditary breast and ovarian cancer syndrome 2014-03-06 criteria provided, single submitter clinical testing
Invitae RCV000167832 SCV000072388 benign Hereditary breast and ovarian cancer syndrome 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656603 SCV000778673 likely benign not provided 2017-07-24 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113286 SCV000267764 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Vantari Genetics RCV000162766 SCV000267016 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 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.