ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) (rs45574331)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514662 SCV000602876 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128918 SCV000172785 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000465613 SCV000541038 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113692 SCV000147001 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768605 SCV000324839 benign Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120355 SCV000586971 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514662 SCV000610790 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Color RCV000128918 SCV000683843 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000113692 SCV000154081 benign Breast-ovarian cancer, familial 2 2014-03-18 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113692 SCV000744507 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120355 SCV000592091 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167851 SCV000257617 likely benign Hereditary breast and ovarian cancer syndrome 2015-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120355 SCV000202294 benign not specified 2013-12-06 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113692 SCV000245106 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 0.02642 (African), derived from 1000 genomes (2012-04-30).
ITMI RCV000120355 SCV000084507 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000383466 SCV000383754 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000167851 SCV000383755 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000128918 SCV000747801 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167851 SCV000494340 benign Hereditary breast and ovarian cancer syndrome 2014-04-15 criteria provided, single submitter clinical testing
Invitae RCV000167851 SCV000073134 benign Hereditary breast and ovarian cancer syndrome 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120355 SCV000538462 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 2.7% (262/9870) African chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000514662 SCV000778701 benign not provided 2017-12-23 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113692 SCV000267805 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Pathway Genomics RCV000113692 SCV000223770 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120355 SCV000805755 benign not specified 2017-04-13 criteria provided, single submitter clinical testing

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