ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) (rs543304)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656598 SCV000602744 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130362 SCV000185213 benign Hereditary cancer-predisposing syndrome 2014-08-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476701 SCV000541022 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113220 SCV000146298 benign Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152874 SCV000586945 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000130362 SCV000537340 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000113220 SCV000154051 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 18.7 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113220 SCV000744444 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113220 SCV000733249 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152874 SCV000202285 benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113220 SCV000245028 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 0.1836 (Asian), 0.1972 (African), 0.1794 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000152874 SCV000693636 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113220 SCV000743289 benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316398 SCV000383687 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354795 SCV000383688 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000316398 SCV000494320 benign Hereditary breast and ovarian cancer syndrome 2013-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152874 SCV000538459 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: Frequency
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656598 SCV000778666 benign not provided 2016-11-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113220 SCV000195977 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152874 SCV000301763 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113220 SCV000189304 benign Breast-ovarian cancer, familial 2 2011-03-17 no assertion criteria provided clinical testing

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