ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.*369A>G (rs7334543)

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Total submissions: 4
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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) RCV000191872 SCV000245317 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 0.06294 (Asian), 0.3435 (African), 0.277 (European), derived from 1000 genomes (2012-04-30).
Illumina Clinical Services Laboratory,Illumina RCV000266218 SCV000383829 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309611 SCV000383830 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585726 SCV000693650 benign not specified 2017-11-01 criteria provided, single submitter clinical testing

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