ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1383G>A (p.Glu461=) (rs864622199)

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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) RCV000495734 SCV000579190 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/).
Invitae RCV000206491 SCV000259669 likely benign not provided 2018-10-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507868 SCV000600478 likely benign not specified 2016-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565622 SCV000666120 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000565622 SCV000683418 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing

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