ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) (rs28897749)

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Total submissions: 28
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034462 SCV000602816 benign not provided 2017-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162583 SCV000212999 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034462 SCV000043229 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113882 SCV000147293 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148414 SCV000190113 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
CSER_CC_NCGL; University of Washington Medical Center RCV000045443 SCV000212197 benign Hereditary breast and ovarian cancer syndrome 2015-03-11 criteria provided, single submitter research
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120362 SCV000586980 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034462 SCV000493633 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000162583 SCV000683949 benign Hereditary cancer-predisposing syndrome 2014-11-22 criteria provided, single submitter clinical testing
Counsyl RCV000113882 SCV000154049 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113882 SCV000744537 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120362 SCV000592177 benign not specified 2015-10-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113882 SCV000733316 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120362 SCV000202302 benign not specified 2014-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000120362 SCV000167408 benign not specified 2013-10-21 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 RCV000120362 SCV000593731 likely benign not specified 2016-07-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113882 SCV000743345 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120362 SCV000084514 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000045443 SCV000383779 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. RCV000162583 SCV000679725 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045443 SCV000494363 benign Hereditary breast and ovarian cancer syndrome 2014-09-24 criteria provided, single submitter clinical testing
Invitae RCV000045443 SCV000073456 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034462 SCV000778718 benign not provided 2017-03-08 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113882 SCV000196012 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113882 SCV000187731 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided literature only
PreventionGenetics RCV000034462 SCV000805775 likely benign not provided 2017-02-20 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162583 SCV000787953 likely benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing
Vantari Genetics RCV000162583 SCV000267025 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing

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