ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) (rs11571657)

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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 RCV000755855 SCV000883470 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129180 SCV000183915 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077358 SCV000146650 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148422 SCV000190121 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Color RCV000129180 SCV000683720 benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
Counsyl RCV000077358 SCV000220345 benign Breast-ovarian cancer, familial 2 2014-05-23 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120348 SCV000591981 benign not specified 2012-08-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120348 SCV000225180 benign not specified 2014-12-04 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735568 SCV000863706 pathogenic Breast and/or ovarian cancer 2012-05-08 no assertion criteria provided clinical testing
GeneDx RCV000120348 SCV000167373 benign not specified 2014-09-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000120348 SCV000593717 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
ITMI RCV000120348 SCV000084500 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000301382 SCV000383721 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044703 SCV000383722 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000129180 SCV000679718 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044703 SCV000494332 benign Hereditary breast and ovarian cancer syndrome 2014-04-18 criteria provided, single submitter clinical testing
Invitae RCV000044703 SCV000072716 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077358 SCV000267783 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120348 SCV000805728 benign not specified 2017-07-10 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120348 SCV000587783 benign not specified 2015-12-17 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077358 SCV000109155 benign Breast-ovarian cancer, familial 2 2008-08-01 no assertion criteria provided clinical testing

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