ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) (rs28897724)

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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 RCV000513194 SCV000602805 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162367 SCV000212675 benign Hereditary cancer-predisposing syndrome 2014-07-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113269 SCV000146368 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768629 SCV000219334 benign Breast and/or ovarian cancer 2017-01-19 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000168569 SCV000586947 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513194 SCV000608679 likely benign not provided 2017-04-30 criteria provided, single submitter clinical testing
Color RCV000162367 SCV000683598 benign Hereditary cancer-predisposing syndrome 2015-04-15 criteria provided, single submitter clinical testing
Counsyl RCV000113269 SCV000154069 likely benign Breast-ovarian cancer, familial 2 2014-02-07 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113269 SCV000744450 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000113269 SCV000301447 benign Breast-ovarian cancer, familial 2 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168569 SCV000591887 benign not specified 2012-02-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113269 SCV000733252 likely benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168569 SCV000225166 benign not specified 2014-08-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113269 SCV000578007 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 0.0047 (Non-Finnish European), 0.0023 (Finnish), 0.0029 (Admixed American/Latino), derived from ExAC (2014-12-17).
Fulgent Genetics,Fulgent Genetics RCV000113269 SCV000575765 benign Breast-ovarian cancer, familial 2 2016-02-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168569 SCV000593714 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113269 SCV000743294 likely benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385860 SCV000383691 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044340 SCV000383692 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. RCV000044340 SCV000267843 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162367 SCV000679716 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044340 SCV000494322 benign Hereditary breast and ovarian cancer syndrome 2014-03-17 criteria provided, single submitter clinical testing
Invitae RCV000044340 SCV000072353 benign Hereditary breast and ovarian cancer syndrome 2018-01-18 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000513194 SCV000778670 benign not provided 2017-08-22 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113269 SCV000195979 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000168569 SCV000805703 benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113269 SCV000189305 benign Breast-ovarian cancer, familial 2 2011-03-14 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162367 SCV000805242 likely benign Hereditary cancer-predisposing syndrome 2018-05-03 no assertion criteria provided clinical testing

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