ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8755-66T>C (rs4942486)

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Total submissions: 6
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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) RCV000113994 SCV000245216 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 0.549 (Asian), 0.502 (African), 0.5383 (European), derived from 1000 genomes (2012-04-30).
PreventionGenetics,PreventionGenetics RCV000251513 SCV000301780 benign not specified criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000251513 SCV000592226 benign not specified criteria provided, single submitter clinical testing
GeneKor MSA RCV000251513 SCV000693645 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113994 SCV000743353 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113994 SCV000147453 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing

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