ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4320A>G (p.Lys1440=) (rs769535925)

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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) RCV000495462 SCV000578671 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/).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507863 SCV000600584 uncertain significance not specified 2017-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568638 SCV000661387 likely benign Hereditary cancer-predisposing syndrome 2016-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000568638 SCV000688868 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758893 SCV000887811 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000507863 SCV000918954 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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