ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.528G>A (p.Thr176=) (rs34545365)

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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) RCV000495208 SCV000578204 likely benign Breast-ovarian cancer, familial 1 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 RCV000123882 SCV000167227 benign not specified 2013-11-04 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.
Ambry Genetics RCV000163742 SCV000214318 likely benign Hereditary cancer-predisposing syndrome 2014-09-18 criteria provided, single submitter clinical testing
Invitae RCV000196512 SCV000253513 benign Hereditary breast and ovarian cancer syndrome 2017-12-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123882 SCV000591277 likely benign not specified 2012-02-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000123882 SCV000605914 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing
Color RCV000163742 SCV000683283 likely benign Hereditary cancer-predisposing syndrome 2016-01-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123882 SCV000699233 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586657 SCV000887717 benign not provided 2018-06-19 criteria provided, single submitter clinical testing

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