ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7806-14T>C (rs9534262)

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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 RCV000152883 SCV000602742 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132168 SCV000187246 benign Hereditary cancer-predisposing syndrome 2013-06-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000459462 SCV000541020 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113823 SCV000147190 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152883 SCV000586976 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000132168 SCV000292074 benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000113823 SCV000154048 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 50.4 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113823 SCV000744526 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152883 SCV000592145 benign not specified criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000152883 SCV000588117 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113823 SCV000733305 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152883 SCV000202301 benign not specified 2015-12-16 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113823 SCV000245136 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 0.5507 (Asian), 0.5589 (African), 0.5409 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000152883 SCV000693644 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113823 SCV000743335 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331967 SCV000383773 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386451 SCV000383774 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000331967 SCV000494343 benign Hereditary breast and ovarian cancer syndrome 2013-10-29 criteria provided, single submitter clinical testing
Invitae RCV000331967 SCV000635606 benign Hereditary breast and ovarian cancer syndrome 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152883 SCV000538463 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: Frequency
Michigan Medical Genetics Laboratories,University of Michigan RCV000113823 SCV000196008 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152883 SCV000301776 benign not specified criteria provided, single submitter clinical testing

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