ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.865A>C (p.Asn289His) (rs766173)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034465 SCV000602763 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130996 SCV000185919 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000470594 SCV000541027 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034465 SCV000043192 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112858 SCV000145781 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120305 SCV000586920 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000768559 SCV000899228 benign Breast carcinoma 2019-04-18 criteria provided, single submitter clinical testing
Color RCV000130996 SCV000292098 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Counsyl RCV000112858 SCV000154039 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 3.7 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112858 SCV000744395 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112858 SCV000733219 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120305 SCV000224756 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112858 SCV000245001 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 0.1049 (Asian), 0.01423 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV000120305 SCV000167328 benign not specified 2013-09-27 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.
GeneKor MSA RCV000120305 SCV000693628 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112858 SCV000743252 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120305 SCV000084457 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000351416 SCV000383616 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393165 SCV000383617 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000393165 SCV000494345 benign Hereditary breast and ovarian cancer syndrome 2014-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034465 SCV000778637 benign not provided 2017-03-06 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112858 SCV000195955 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120305 SCV000301778 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112858 SCV000189317 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided clinical testing

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