ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8487+19A>G (rs11571743)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000168608 SCV000602791 benign not specified 2016-01-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000463336 SCV000541049 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113944 SCV000147376 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Color RCV000580360 SCV000683969 benign Hereditary cancer-predisposing syndrome 2015-08-14 criteria provided, single submitter clinical testing
Counsyl RCV000113944 SCV000154073 benign Breast-ovarian cancer, familial 2 2014-02-18 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113944 SCV000744540 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168608 SCV000592199 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168608 SCV000226860 benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113944 SCV000245177 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 0.04268 (African), derived from 1000 genomes (2012-04-30).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113944 SCV000743346 likely benign Breast-ovarian cancer, familial 2 2017-07-31 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000206585 SCV000267846 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000206585 SCV000494374 benign Hereditary breast and ovarian cancer syndrome 2014-02-14 criteria provided, single submitter clinical testing
Invitae RCV000206585 SCV000262396 benign Hereditary breast and ovarian cancer syndrome 2018-01-23 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113944 SCV000196014 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000168608 SCV000805781 benign not specified 2017-12-13 criteria provided, single submitter clinical testing

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