ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) (rs73155056)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206490 SCV000262427 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000206490 SCV000488480 likely benign Colorectal cancer, susceptibility to, 12 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000441299 SCV000518048 benign not specified 2017-05-25 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 RCV000492710 SCV000581388 benign Hereditary cancer-predisposing syndrome 2015-06-05 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000441299 SCV000602089 likely benign not specified 2017-02-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000441299 SCV000806848 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759321 SCV000888576 benign not provided 2018-03-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000759321 SCV001148864 likely benign not provided 2017-03-01 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000492710 SCV000788192 likely benign Hereditary cancer-predisposing syndrome 2017-11-10 no assertion criteria provided clinical testing

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