ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2004G>A (p.Arg668=) (rs755049218)

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Total submissions: 9
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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) RCV000412104 SCV000578937 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 RCV000163664 SCV000214235 likely benign Hereditary cancer-predisposing syndrome 2014-09-12 criteria provided, single submitter clinical testing
Invitae RCV001088016 SCV000283179 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000412104 SCV000487771 likely benign Breast-ovarian cancer, familial 2 2015-12-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499647 SCV000591786 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000499647 SCV000600495 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Color RCV000163664 SCV000688736 likely benign Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000499647 SCV000694588 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588304 SCV000888997 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing

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