ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) (rs11571769)

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Total submissions: 32
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034468 SCV000602773 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128883 SCV000172740 benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476344 SCV000541045 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034468 SCV000043234 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114009 SCV000147474 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768611 SCV000324842 benign Breast and/or ovarian cancer 2016-01-04 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120367 SCV000586986 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034468 SCV000510683 benign not provided 2016-09-28 criteria provided, single submitter clinical testing
Color RCV000128883 SCV000537387 benign Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing
Counsyl RCV000114009 SCV000154050 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000114009 SCV000744552 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120367 SCV000592234 benign not specified 2012-05-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000114009 SCV000733327 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000045643 SCV000296861 benign Hereditary breast and ovarian cancer syndrome 2015-10-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120367 SCV000227874 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114009 SCV000321230 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 0.036 (Admixed American/Latino), 0.0215 (South Asian), derived from 1000 genomes (2013-05-02).
Fulgent Genetics,Fulgent Genetics RCV000114009 SCV000575751 likely benign Breast-ovarian cancer, familial 2 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000120367 SCV000167416 benign not specified 2013-10-02 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000114009 SCV000743355 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120367 SCV000084519 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000045643 SCV000383795 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322663 SCV000383796 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045643 SCV000494370 benign Hereditary breast and ovarian cancer syndrome 2014-02-04 criteria provided, single submitter clinical testing
Invitae RCV000045643 SCV000073656 benign Hereditary breast and ovarian cancer syndrome 2018-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120367 SCV000538465 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: 3.5% (402/11526) Latino chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034468 SCV000778721 likely benign not provided 2017-03-30 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000114009 SCV000196019 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000114009 SCV000223768 benign Breast-ovarian cancer, familial 2 2014-10-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120367 SCV000805788 benign not specified 2016-10-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000114009 SCV000189319 benign Breast-ovarian cancer, familial 2 2011-03-14 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128883 SCV000787957 benign Hereditary cancer-predisposing syndrome 2017-09-13 no assertion criteria provided clinical testing
Vantari Genetics RCV000128883 SCV000267027 benign Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing

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