ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.-175C>T (rs55880202)

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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) RCV000191545 SCV000244911 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 0.03659 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000829446 SCV000971176 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneKor MSA RCV000502751 SCV000693621 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502751 SCV000593694 benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376908 SCV000383591 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287128 SCV000383592 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing

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