ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.516+21A>T (rs11571622)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506204 SCV000602811 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000191599 SCV000744386 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000191599 SCV000244975 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 0.03252 (African), derived from 1000 genomes (2012-04-30).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000191599 SCV000743243 benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000578030 SCV000679707 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000191599 SCV000267731 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing

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