ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.*841A>G (rs186619625)

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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) RCV000254904 SCV000321201 benign Breast-ovarian cancer, familial 2 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0153 (South Asian), derived from 1000 genomes (2013-05-02).
Illumina Clinical Services Laboratory,Illumina RCV000259887 SCV000383855 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317457 SCV000383856 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing

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