ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3714G>A (p.Val1238=) (rs780000105)

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Total submissions: 7
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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) RCV000495341 SCV000579063 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 RCV000219763 SCV000275492 likely benign Hereditary cancer-predisposing syndrome 2015-05-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508500 SCV000600560 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759606 SCV000889031 likely benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000508500 SCV000919011 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV001088761 SCV001123391 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000219763 SCV001360215 likely benign Hereditary cancer-predisposing syndrome 2019-11-21 criteria provided, single submitter clinical testing

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