ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) (rs36060526)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656595 SCV000602874 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162497 SCV000212884 benign Hereditary cancer-predisposing syndrome 2014-09-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000474724 SCV000541036 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113152 SCV000146200 uncertain significance Breast-ovarian cancer, familial 2 2003-10-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768626 SCV000324837 benign Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152872 SCV000586940 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000162497 SCV000683541 benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Counsyl RCV000113152 SCV000154082 benign Breast-ovarian cancer, familial 2 2014-03-14 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113152 SCV000744437 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152872 SCV000591852 benign not specified 2012-11-05 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000044161 SCV000257608 likely benign Hereditary breast and ovarian cancer syndrome 2015-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152872 SCV000202283 benign not specified 2015-04-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113152 SCV000245026 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).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113152 SCV000743283 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372410 SCV000383671 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044161 SCV000383672 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. RCV000162497 SCV000679713 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044161 SCV000494316 benign Hereditary breast and ovarian cancer syndrome 2014-04-11 criteria provided, single submitter clinical testing
Invitae RCV000044161 SCV000072174 benign Hereditary breast and ovarian cancer syndrome 2018-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656595 SCV000778662 likely benign not provided 2017-12-22 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113152 SCV000267756 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152872 SCV000805690 benign not specified 2017-04-13 criteria provided, single submitter clinical testing

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