ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5634C>T (p.Asn1878=) (rs80358784)

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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) RCV000495190 SCV000578702 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 RCV000163214 SCV000213737 likely benign Hereditary cancer-predisposing syndrome 2014-07-17 criteria provided, single submitter clinical testing
Invitae RCV000587082 SCV000283267 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507230 SCV000600651 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Color RCV000163214 SCV000683719 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000507230 SCV000694885 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587082 SCV000887852 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing

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