ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) (rs9590940)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755478 SCV000602770 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128993 SCV000172887 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000470439 SCV000541033 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113937 SCV000147369 uncertain significance Breast-ovarian cancer, familial 2 2007-01-18 no assertion criteria provided clinical testing
Color RCV000128993 SCV000683967 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Counsyl RCV000113937 SCV000154064 benign Breast-ovarian cancer, familial 2 2014-01-09 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152884 SCV000592193 benign not specified 2013-05-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152884 SCV000202303 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113937 SCV000245176 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 0.04675 (African), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000113937 SCV000575736 likely benign Breast-ovarian cancer, familial 2 2015-09-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404467 SCV000383783 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000045525 SCV000383784 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045525 SCV000494344 benign Hereditary breast and ovarian cancer syndrome 2014-01-30 criteria provided, single submitter clinical testing
Invitae RCV000045525 SCV000073538 benign Hereditary breast and ovarian cancer syndrome 2018-01-25 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113937 SCV000196013 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152884 SCV000805780 benign not specified 2016-11-03 criteria provided, single submitter clinical testing

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