ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-83G>A (rs9595456)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000114082 SCV000147592 uncertain significance Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114082 SCV000245296 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 0.02972 (Asian), 0.1463 (African), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000585692 SCV000693646 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000114082 SCV000743361 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing

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