ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) (rs11571642)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112968 SCV000245005 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 0.01829 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000656589 SCV000071896 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000112968 SCV000154065 benign Breast-ovarian cancer, familial 2 2014-01-09 criteria provided, single submitter literature only
Ambry Genetics RCV000162709 SCV000213170 benign Hereditary cancer-predisposing syndrome 2015-11-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173628 SCV000224755 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397994 SCV000383637 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043883 SCV000383638 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000043883 SCV000494303 benign Hereditary breast and ovarian cancer syndrome 2014-04-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000462260 SCV000541046 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173628 SCV000591766 benign not specified 2012-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656589 SCV000602872 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162709 SCV000679709 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Color RCV000162709 SCV000683447 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112968 SCV000743264 benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112968 SCV000744415 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173628 SCV000805656 benign not specified 2017-02-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770713 SCV000902190 uncertain significance Breast and/or ovarian cancer 2016-07-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112968 SCV000145934 uncertain significance Breast-ovarian cancer, familial 2 1997-11-13 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656589 SCV000778647 benign not provided 2017-11-20 no assertion criteria provided clinical testing

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