ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) (rs1799954)

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Total submissions: 32
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034452 SCV000602767 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162509 SCV000212900 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000461415 SCV000541060 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034452 SCV000043219 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113532 SCV000146768 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 RCV000120331 SCV000586965 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034452 SCV000608682 likely benign not provided 2017-06-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034452 SCV000511453 benign not provided 2016-06-27 criteria provided, single submitter clinical testing
Color RCV000162509 SCV000910521 benign Hereditary cancer-predisposing syndrome 2015-10-13 criteria provided, single submitter clinical testing
Counsyl RCV000113532 SCV000154068 benign Breast-ovarian cancer, familial 2 2014-02-06 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113532 SCV000744482 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000113532 SCV000301450 likely benign Breast-ovarian cancer, familial 2 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120331 SCV000592030 benign not specified 2012-06-27 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000120331 SCV000588107 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113532 SCV000733278 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120331 SCV000225165 benign not specified 2014-08-18 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113532 SCV000244462 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000571
Fulgent Genetics,Fulgent Genetics RCV000113532 SCV000575742 likely benign Breast-ovarian cancer, familial 2 2015-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000120331 SCV000167377 benign not specified 2013-10-09 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 RCV000120331 SCV000593721 benign not specified 2017-03-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113532 SCV000743316 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120331 SCV000084483 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000044844 SCV000383731 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. RCV000044844 SCV000576435 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044844 SCV000494335 benign Hereditary breast and ovarian cancer syndrome 2014-02-14 criteria provided, single submitter clinical testing
Invitae RCV000044844 SCV000072857 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034452 SCV000778695 likely benign not provided 2017-02-21 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113532 SCV000195996 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113532 SCV000189907 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000120331 SCV000805734 benign not specified 2016-09-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113532 SCV000189312 benign Breast-ovarian cancer, familial 2 2011-03-10 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162509 SCV000788118 likely benign Hereditary cancer-predisposing syndrome 2017-11-10 no assertion criteria provided clinical testing

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