ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) (rs28897712)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000168555 SCV000602834 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162572 SCV000212988 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034434 SCV000043201 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113003 SCV000145988 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 RCV000735527 SCV000219313 likely benign Breast and/or ovarian cancer 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000162572 SCV000683465 benign Hereditary cancer-predisposing syndrome 2015-04-15 criteria provided, single submitter clinical testing
Counsyl RCV000113003 SCV000154034 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113003 SCV000744423 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168555 SCV000591785 benign not specified 2013-01-28 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000043931 SCV000296851 likely benign Hereditary breast and ovarian cancer syndrome 2015-09-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168555 SCV000225171 likely benign not specified 2014-11-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113003 SCV000244428 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 = 0.0000686
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735527 SCV000863665 benign Breast and/or ovarian cancer 2012-08-30 no assertion criteria provided clinical testing
GeneDx RCV000168555 SCV000167339 benign not specified 2013-10-03 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 RCV000168555 SCV000593707 benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043931 SCV000383646 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. RCV000162572 SCV000679710 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000043931 SCV000071944 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034434 SCV000778651 likely benign not provided 2016-11-29 no assertion criteria provided clinical testing
Mendelics RCV000043931 SCV000838766 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000168555 SCV000805661 benign not specified 2016-07-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162572 SCV000787922 benign Hereditary cancer-predisposing syndrome 2018-09-06 no assertion criteria provided clinical testing

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