ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6841+80_6841+83del (rs11571661)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113661 SCV000146954 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Color RCV000580757 SCV000683818 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000496478 SCV000588111 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113661 SCV000245037 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 0.38 (Asian), 0.18 (African), 0.29 (European), derived from 1000 genomes (2012-04-30).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113661 SCV000743324 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000114980 SCV000148881 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000113661 SCV000746281 benign Breast-ovarian cancer, familial 2 2017-12-03 criteria provided, single submitter clinical testing

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