ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) (rs41293485)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000514107 SCV000602782 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128895 SCV000172755 benign Hereditary cancer-predisposing syndrome 2014-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000467710 SCV000541061 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113233 SCV000146322 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514107 SCV000610415 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Color RCV000128895 SCV000683588 benign Hereditary cancer-predisposing syndrome 2015-08-26 criteria provided, single submitter clinical testing
Counsyl RCV000113233 SCV000154085 likely benign Breast-ovarian cancer, familial 2 2014-03-18 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120338 SCV000591880 benign not specified 2012-04-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120338 SCV000332977 benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113233 SCV000245029 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 0.01423 (African), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000113233 SCV000575737 likely benign Breast-ovarian cancer, familial 2 2015-11-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120338 SCV000593713 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
ITMI RCV000120338 SCV000084490 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000167839 SCV000383689 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319921 SCV000383690 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000167839 SCV000072307 benign Hereditary breast and ovarian cancer syndrome 2018-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000514107 SCV000778668 likely benign not provided 2017-03-06 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113233 SCV000267762 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113233 SCV000223761 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113233 SCV000054049 benign Breast-ovarian cancer, familial 2 2011-03-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128895 SCV000886673 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 no assertion criteria provided clinical testing

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