ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) (rs41561818)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572485 SCV000671225 likely benign Hereditary cancer-predisposing syndrome 2015-06-18 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
Counsyl RCV000203869 SCV000786284 likely benign Colorectal cancer, susceptibility to, 12 2018-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000444652 SCV000517997 benign not specified 2017-12-08 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.
Invitae RCV000203869 SCV000261558 benign Colorectal cancer, susceptibility to, 12 2018-01-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679633 SCV000806777 likely benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000444652 SCV000602046 likely benign not specified 2017-02-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679633 SCV000888536 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000572485 SCV000788177 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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