ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.*295C>G (rs11571834)

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Total submissions: 3
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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) RCV000191871 SCV000245316 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).
Illumina Clinical Services Laboratory,Illumina RCV000404048 SCV000383823 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297879 SCV000383824 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing

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