ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) (rs80359198)

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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) RCV000495427 SCV000578963 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 RCV000164250 SCV000214874 likely benign Hereditary cancer-predisposing syndrome 2015-07-19 criteria provided, single submitter clinical testing
Invitae RCV000206162 SCV000261812 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240721 SCV000265967 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
GeneDx RCV000430642 SCV000512397 benign not specified 2015-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000430642 SCV000600854 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing
Color RCV000164250 SCV000684049 likely benign Hereditary cancer-predisposing syndrome 2017-02-26 criteria provided, single submitter clinical testing
Counsyl RCV000495427 SCV000784922 likely benign Breast-ovarian cancer, familial 2 2017-02-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000430642 SCV000919038 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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