ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.517-19C>T

gnomAD frequency: 0.00693  dbSNP: rs11571623
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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113729 SCV000244976 benign Breast-ovarian cancer, familial, susceptibility to, 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000167821 SCV000072600 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000113729 SCV000154074 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-02-19 criteria provided, single submitter literature only
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.
Eurofins Ntd Llc (ga) RCV000179707 SCV000231998 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories, University of Michigan RCV000113729 SCV000267732 benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000167821 SCV000494359 benign Hereditary breast ovarian cancer syndrome 2014-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000469214 SCV000541047 benign Familial cancer of breast 2017-02-23 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811312 SCV000602870 benign not provided 2023-09-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579837 SCV000683682 benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000113729 SCV000744387 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-05-31 criteria provided, single submitter clinical testing
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
PreventionGenetics, part of Exact Sciences RCV000179707 SCV000805716 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000167821 SCV002025948 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579837 SCV002643686 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000179707 SCV002761134 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149683 SCV003838143 benign Breast and/or ovarian cancer 2022-04-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000113729 SCV004016831 benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113729 SCV000147048 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1998-07-10 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000113729 SCV000733214 benign Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000179707 SCV001905754 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000179707 SCV001957452 benign not specified no assertion criteria provided clinical testing

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