ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6675C>T (p.Arg2225=)

gnomAD frequency: 0.00121  dbSNP: rs149973644
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080214 SCV000261717 benign Colorectal cancer, susceptibility to, 12 2021-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000679670 SCV000520975 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425210 SCV000602087 benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565304 SCV000671241 likely benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
PreventionGenetics,PreventionGenetics RCV000679670 SCV000806847 likely benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679670 SCV000888570 benign not provided 2017-06-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000679670 SCV001148866 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000425210 SCV002066433 likely benign not specified 2021-11-22 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000565304 SCV002536925 benign Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425210 SCV002548401 benign not specified 2022-05-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000679670 SCV001809631 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000425210 SCV001926063 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000679670 SCV001959861 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000679670 SCV001973086 likely benign not provided no assertion criteria provided clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000425210 SCV002550018 likely benign not specified 2021-11-02 no assertion criteria provided clinical testing

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