ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) (rs140566004)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226972 SCV000289249 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000486754 SCV000570198 likely benign not specified 2018-02-01 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486754 SCV000601973 likely benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561918 SCV000671306 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Mendelics RCV000709277 SCV000838708 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing

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