ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5787T>C (p.Ile1929=) (rs765881070)

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Total submissions: 3
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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) RCV000494932 SCV000579205 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 RCV000165471 SCV000216202 likely benign Hereditary cancer-predisposing syndrome 2014-08-17 criteria provided, single submitter clinical testing
Invitae RCV000637867 SCV000759346 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-25 criteria provided, single submitter clinical testing

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