ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-113T>G (rs191553604)

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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) RCV000191858 SCV000245295 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 0.01187 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV000837468 SCV000979323 likely benign not provided 2018-06-15 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.
University of Washington Department of Laboratory Medicine,University of Washington RCV000209287 SCV000265015 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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