ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6747C>T (p.Ala2249=) (rs786201405)

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Total submissions: 4
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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) RCV000495640 SCV000578637 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 RCV000163559 SCV000214117 likely benign Hereditary cancer-predisposing syndrome 2013-12-05 criteria provided, single submitter clinical testing
Invitae RCV000546439 SCV000635527 likely benign Hereditary breast and ovarian cancer syndrome 2017-04-10 criteria provided, single submitter clinical testing
Color RCV000163559 SCV000906149 likely benign Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing

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