ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) (rs55794205)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129227 SCV000183981 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034453 SCV000043220 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) RCV000113572 SCV000146824 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 RCV000735585 SCV000219376 benign Breast and/or ovarian cancer 2016-03-09 criteria provided, single submitter clinical testing
Color RCV000129227 SCV000683773 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000113572 SCV000220889 likely benign Breast-ovarian cancer, familial 2 2014-11-16 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113572 SCV000744486 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120335 SCV000592042 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735585 SCV000863723 uncertain significance Breast and/or ovarian cancer 2013-03-15 no assertion criteria provided clinical testing
GeneDx RCV000120335 SCV000210627 likely benign not specified 2017-11-24 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113572 SCV000743318 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
ITMI RCV000120335 SCV000084487 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000044911 SCV000383736 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384925 SCV000383737 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044911 SCV000494352 benign Hereditary breast and ovarian cancer syndrome 2015-04-30 criteria provided, single submitter clinical testing
Invitae RCV000044911 SCV000072924 benign Hereditary breast and ovarian cancer syndrome 2017-12-25 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034453 SCV000778696 likely benign not provided 2017-04-21 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113572 SCV000267793 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120335 SCV000805739 benign not specified 2017-08-17 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120335 SCV000587835 benign not specified 2014-01-31 no assertion criteria provided research

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