ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6918T>C (p.Ala2306=) (rs876659441)

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Total submissions: 5
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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) RCV000495035 SCV000578690 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/).
Ambry Genetics RCV000220425 SCV000275907 likely benign Hereditary cancer-predisposing syndrome 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000614599 SCV000722050 likely benign not specified 2017-08-14 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000495035 SCV000743326 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000495035 SCV000744503 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing

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