ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5025T>C (p.Cys1675=) (rs370591460)

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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) RCV000495308 SCV000578934 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 RCV000165592 SCV000216326 likely benign Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing
Invitae RCV000466041 SCV000560396 likely benign Hereditary breast and ovarian cancer syndrome 2016-10-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506723 SCV000600621 likely benign not specified 2016-10-21 criteria provided, single submitter clinical testing
Color RCV000165592 SCV000688912 likely benign Hereditary cancer-predisposing syndrome 2017-06-26 criteria provided, single submitter clinical testing

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