ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) (rs34351119)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656608 SCV000602875 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162496 SCV000212883 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000456283 SCV000541037 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768630 SCV000324838 benign Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152877 SCV000586960 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162496 SCV000683704 benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Counsyl RCV000119248 SCV000154084 benign Breast-ovarian cancer, familial 2 2014-03-17 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152877 SCV000591966 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152877 SCV000202289 benign not specified 2015-04-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000119248 SCV000245033 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 0.02642 (African), derived from 1000 genomes (2012-04-30).
Illumina Clinical Services Laboratory,Illumina RCV000205532 SCV000383717 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278816 SCV000383718 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000205532 SCV000494330 benign Hereditary breast and ovarian cancer syndrome 2014-04-11 criteria provided, single submitter clinical testing
Invitae RCV000205532 SCV000262435 benign Hereditary breast and ovarian cancer syndrome 2018-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656608 SCV000778685 likely benign not provided 2017-12-22 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000119248 SCV000267781 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152877 SCV000805722 benign not specified 2017-04-13 criteria provided, single submitter clinical testing

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