ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6841+80_6841+83del

dbSNP: rs11571661
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113661 SCV000245037 benign Breast-ovarian cancer, familial, susceptibility to, 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).
Department of Pathology and Molecular Medicine, Queen's University RCV000496478 SCV000588111 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580757 SCV000683818 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000113661 SCV000743324 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-10-09 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000113661 SCV000746281 benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001682797 SCV001899714 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113661 SCV000146954 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-12-17 no assertion criteria provided 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.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000496478 SCV001905761 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000496478 SCV001965936 benign not specified no assertion criteria provided clinical testing

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