ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2949A>G (p.Pro983=) (rs762378787)

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Total submissions: 5
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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) RCV000495090 SCV000579125 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 RCV000215311 SCV000272937 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Invitae RCV000228483 SCV000283198 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500075 SCV000591838 likely benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Color RCV000215311 SCV000683514 likely benign Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing

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