ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9396A>G (p.Lys3132=) (rs201172050)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164057 SCV000214665 likely benign Hereditary cancer-predisposing syndrome 2014-08-27 criteria provided, single submitter clinical testing
Color RCV000164057 SCV000684060 likely benign Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000425349 SCV000592283 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495697 SCV000578878 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000425349 SCV000515339 likely benign not specified 2018-01-15 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.
Genetic Services Laboratory, University of Chicago RCV000425349 SCV000593738 likely benign not specified 2017-06-02 criteria provided, single submitter clinical testing
Invitae RCV000199241 SCV000253059 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758975 SCV000887963 likely benign not provided 2018-02-02 criteria provided, single submitter clinical testing

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