ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-16T>C (rs11571818)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000152886 SCV000602757 benign not specified 2016-02-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000468147 SCV000541044 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114078 SCV000147587 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152886 SCV000586991 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000446929 SCV000537380 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000114078 SCV000154101 benign Breast-ovarian cancer, familial 2 2014-04-10 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000114078 SCV000744560 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152886 SCV000592269 benign not specified 2015-09-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000114078 SCV000733336 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152886 SCV000202306 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114078 SCV000245297 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 0.01055 (European), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000114078 SCV000575764 benign Breast-ovarian cancer, familial 2 2016-02-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000114078 SCV000743362 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045764 SCV000494375 benign Hereditary breast and ovarian cancer syndrome 2014-02-03 criteria provided, single submitter clinical testing
Invitae RCV000045764 SCV000073777 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000114078 SCV000196024 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152886 SCV000301782 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000114078 SCV000189322 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided clinical testing

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