ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4359A>G (p.Lys1453=) (rs774446640)

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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) RCV000495050 SCV000579191 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 RCV000220733 SCV000273362 likely benign Hereditary cancer-predisposing syndrome 2015-01-06 criteria provided, single submitter clinical testing
Invitae RCV001087578 SCV000635362 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000220733 SCV000906083 likely benign Hereditary cancer-predisposing syndrome 2018-07-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000554340 SCV001134935 benign not provided 2019-06-02 criteria provided, single submitter clinical testing

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