ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3462C>T (p.Thr1154=) (rs4986856)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163356 SCV000213890 likely benign Hereditary cancer-predisposing syndrome 2014-10-15 criteria provided, single submitter clinical testing
Color RCV000163356 SCV000683558 likely benign Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495110 SCV000579168 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 RCV000204835 SCV000260166 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679168 SCV000805693 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507923 SCV000600551 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing

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