ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.517-19C>T (rs11571623)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000179707 SCV000602870 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000469214 SCV000541047 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113729 SCV000147048 uncertain significance Breast-ovarian cancer, familial 2 1998-07-10 no assertion criteria provided clinical testing
Color RCV000579837 SCV000683682 benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000113729 SCV000154074 benign Breast-ovarian cancer, familial 2 2014-02-19 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113729 SCV000744387 likely benign Breast-ovarian cancer, familial 2 2017-05-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000179707 SCV000591693 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113729 SCV000733214 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179707 SCV000231998 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113729 SCV000244976 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 0.02846 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000179707 SCV000167324 benign not specified 2013-10-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000579837 SCV000803155 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167821 SCV000494359 benign Hereditary breast and ovarian cancer syndrome 2014-02-21 criteria provided, single submitter clinical testing
Invitae RCV000167821 SCV000072600 benign Hereditary breast and ovarian cancer syndrome 2018-01-25 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113729 SCV000267732 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179707 SCV000805716 benign not specified 2016-11-02 criteria provided, single submitter clinical testing

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