ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) (rs55953736)

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Total submissions: 26
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034456 SCV000602846 benign not provided 2018-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131142 SCV000186080 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034456 SCV000043223 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113577 SCV000146832 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148423 SCV000190122 likely benign Breast and/or ovarian cancer 2014-06-01 no assertion criteria provided research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034456 SCV000511251 likely benign not provided 2016-09-20 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000131142 SCV000683776 benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Counsyl RCV000113577 SCV000154071 likely benign Breast-ovarian cancer, familial 2 2014-02-18 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113577 SCV000744488 benign Breast-ovarian cancer, familial 2 2017-05-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120324 SCV000592045 benign not specified 2013-08-16 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167845 SCV000296856 benign Hereditary breast and ovarian cancer syndrome 2015-10-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120324 SCV000225190 benign not specified 2015-07-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113577 SCV000321286 benign Breast-ovarian cancer, familial 2 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.025 (African), derived from 1000 genomes (2013-05-02).
Fulgent Genetics,Fulgent Genetics RCV000113577 SCV000575757 likely benign Breast-ovarian cancer, familial 2 2015-11-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120324 SCV000593723 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113577 SCV000743320 likely benign Breast-ovarian cancer, familial 2 2015-06-15 criteria provided, single submitter clinical testing
ITMI RCV000120324 SCV000084476 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000167845 SCV000383742 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395640 SCV000383743 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131142 SCV000747814 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167845 SCV000494337 benign Hereditary breast and ovarian cancer syndrome 2014-03-12 criteria provided, single submitter clinical testing
Invitae RCV000167845 SCV000072932 benign Hereditary breast and ovarian cancer syndrome 2018-01-13 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113577 SCV000195997 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120324 SCV000805742 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131142 SCV000787940 likely benign Hereditary cancer-predisposing syndrome 2018-01-24 no assertion criteria provided clinical testing
Vantari Genetics RCV000131142 SCV000267021 likely benign Hereditary cancer-predisposing syndrome 2016-01-04 criteria provided, single submitter clinical testing

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