ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) (rs11571659)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044938 SCV000072951 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000077373 SCV000154066 benign Breast-ovarian cancer, familial 2 2014-01-21 criteria provided, single submitter literature only
Ambry Genetics RCV000128955 SCV000172835 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120342 SCV000225183 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077373 SCV000267796 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311226 SCV000383744 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044938 SCV000383745 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414271 SCV000492498 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000044938 SCV000494338 benign Hereditary breast and ovarian cancer syndrome 2014-09-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120342 SCV000592049 benign not specified 2012-06-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656613 SCV000602798 benign not provided 2017-09-14 criteria provided, single submitter clinical testing
Color RCV000128955 SCV000683781 likely benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077373 SCV000744492 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120342 SCV000805743 benign not specified 2017-03-20 criteria provided, single submitter clinical testing
ITMI RCV000120342 SCV000084494 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000077373 SCV000109170 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077373 SCV000146846 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656613 SCV000778698 likely benign not provided 2018-02-01 no assertion criteria provided clinical testing

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