ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.776G>A (p.Arg259His) (rs61732929)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568305 SCV000671221 likely benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442441 SCV000510795 likely benign not provided 2017-01-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Counsyl RCV000205994 SCV000489134 likely benign Colorectal cancer, susceptibility to, 12 2016-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000442749 SCV000518415 likely benign not specified 2017-11-15 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.
Genetic Services Laboratory, University of Chicago RCV000442749 SCV000596497 uncertain significance not specified 2017-04-02 criteria provided, single submitter clinical testing
Invitae RCV000205994 SCV000262257 benign Colorectal cancer, susceptibility to, 12 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000442749 SCV000806854 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000442749 SCV000602099 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000568305 SCV000788194 likely benign Hereditary cancer-predisposing syndrome 2017-11-17 no assertion criteria provided clinical testing

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