ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) (rs368404583)

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Total submissions: 9
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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) RCV000495515 SCV000578823 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 RCV000123960 SCV000167352 benign not specified 2014-02-26 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.
Ambry Genetics RCV000164199 SCV000214820 likely benign Hereditary cancer-predisposing syndrome 2015-02-26 criteria provided, single submitter clinical testing
Invitae RCV001080053 SCV000283203 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000462651 SCV000541072 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679166 SCV000805683 likely benign not provided 2017-10-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679166 SCV000889014 likely benign not provided 2019-03-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123960 SCV000918961 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color RCV000164199 SCV001354156 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing

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