ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7435+53C>T (rs11147489)

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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) RCV000113756 SCV000245110 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 0.1031 (Asian), 0.01423 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504001 SCV000592109 benign not specified criteria provided, single submitter clinical testing
Color RCV000579911 SCV000683871 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
GeneKor MSA RCV000504001 SCV000693643 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113756 SCV000743332 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113756 SCV000147082 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing

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