ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) (rs35029074)

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Total submissions: 26
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656612 SCV000602844 benign not provided 2018-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162540 SCV000212942 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031619 SCV000146825 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768601 SCV000219377 benign Breast and/or ovarian cancer 2016-01-05 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148434 SCV000190133 likely benign Neoplasm of the breast 2014-06-01 criteria provided, single submitter research
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000168589 SCV000586967 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162540 SCV000683774 benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Counsyl RCV000031619 SCV000154045 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031619 SCV000744487 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168589 SCV000592043 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031619 SCV000733280 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168589 SCV000225177 benign not specified 2014-12-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031619 SCV000244465 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 = 0.000000000000372
GeneDx RCV000168589 SCV000167379 benign not specified 2013-12-23 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 RCV000168589 SCV000593722 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031619 SCV000743319 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290378 SCV000383738 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044912 SCV000383739 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000044912 SCV000072925 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168589 SCV000538467 benign not specified 2016-05-11 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: Ben by expert panel
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656612 SCV000778697 benign not provided 2017-02-20 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031619 SCV000267794 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Pathway Genomics RCV000031619 SCV000189896 benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000656612 SCV000805740 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031619 SCV000054226 benign Breast-ovarian cancer, familial 2 2012-10-10 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162540 SCV000787939 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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