ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) (rs56248502)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656601 SCV000602753 benign not provided 2017-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131014 SCV000185940 benign Hereditary cancer-predisposing syndrome 2014-07-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000469910 SCV000541050 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113272 SCV000146371 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 RCV000770724 SCV000902203 benign Breast and/or ovarian cancer 2016-03-08 criteria provided, single submitter clinical testing
Color RCV000131014 SCV000683601 benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000113272 SCV000220319 benign Breast-ovarian cancer, familial 2 2014-05-14 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113272 SCV000744451 benign Breast-ovarian cancer, familial 2 2017-05-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120319 SCV000591890 benign not specified 2013-01-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113272 SCV000733253 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120319 SCV000225186 benign not specified 2014-07-16 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113272 SCV000245030 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02236 (African), derived from 1000 genomes (2012-04-30).
Genetic Services Laboratory, University of Chicago RCV000120319 SCV000593715 likely benign not specified 2017-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113272 SCV000743295 benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
ITMI RCV000120319 SCV000084471 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000044344 SCV000383693 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389513 SCV000383694 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131014 SCV000679717 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044344 SCV000494323 benign Hereditary breast and ovarian cancer syndrome 2014-04-15 criteria provided, single submitter clinical testing
Invitae RCV000044344 SCV000072357 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656601 SCV000778671 likely benign not provided 2017-08-09 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113272 SCV000195981 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120319 SCV000805704 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131014 SCV000787929 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing

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