ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7596C>T (p.Pro2532=) (rs748631472)

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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) RCV000410990 SCV000578708 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 RCV000163769 SCV000214350 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Counsyl RCV000410990 SCV000489075 likely benign Breast-ovarian cancer, familial 2 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV000589370 SCV000560418 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506363 SCV000600758 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Color RCV000163769 SCV000683891 likely benign Hereditary cancer-predisposing syndrome 2017-05-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000506363 SCV000695081 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000589370 SCV000805766 likely benign not provided 2017-06-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589370 SCV000889134 likely benign not provided 2017-02-09 criteria provided, single submitter clinical testing

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