ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.522A>G (p.Gln174=) (rs765432756)

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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) RCV000211001 SCV000578177 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/).
Ambry Genetics RCV000163148 SCV000213665 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587830 SCV000232251 uncertain significance not provided 2014-08-18 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000211001 SCV000267683 likely benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000179931 SCV000517463 likely benign not specified 2017-02-24 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.
Department of Pathology and Molecular Medicine,Queen's University RCV000179931 SCV000588029 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000587830 SCV000636021 likely benign not provided 2019-01-26 criteria provided, single submitter clinical testing
Color RCV000163148 SCV000683273 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000179931 SCV000699225 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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