ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) (rs11571655)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000585112 SCV000602848 benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162529 SCV000212926 likely benign Hereditary cancer-predisposing syndrome 2014-07-17 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113110 SCV000146136 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 RCV000768591 SCV000219319 likely benign Breast and/or ovarian cancer 2017-01-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585112 SCV000692769 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Color RCV000162529 SCV000683507 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000113110 SCV000154077 likely benign Breast-ovarian cancer, familial 2 2014-02-27 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113110 SCV000744432 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 RCV000168559 SCV000591832 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000168559 SCV000588086 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113110 SCV000733242 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168559 SCV000225185 likely benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113110 SCV000578002 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0012 (Non-Finnish European), derived from ExAC (2014-12-17).
Genetic Services Laboratory, University of Chicago RCV000168559 SCV000593708 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113110 SCV000743277 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044081 SCV000383661 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369425 SCV000383662 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000044081 SCV000576434 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044081 SCV000494371 benign Hereditary breast and ovarian cancer syndrome 2014-02-27 criteria provided, single submitter clinical testing
Invitae RCV000044081 SCV000072094 benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113110 SCV000195971 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000585112 SCV000805678 likely benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113110 SCV000189301 benign Breast-ovarian cancer, familial 2 2011-03-09 no assertion criteria provided clinical testing

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