ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.171C>T (p.Tyr57=) (rs201523522)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564611 SCV000668521 likely benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing
Color RCV000564611 SCV000905893 likely benign Hereditary cancer-predisposing syndrome 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000495727 SCV000786480 likely benign Breast-ovarian cancer, familial 2 2018-05-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495727 SCV000579001 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/).
GeneDx RCV000429263 SCV000536198 likely benign not specified 2017-01-10 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.
Invitae RCV000462455 SCV000560413 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240803 SCV000265923 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research

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