ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1740C>T (p.His580=) (rs114972594)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573496 SCV000671411 likely benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000427262 SCV000527845 likely benign not specified 2017-07-18 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 RCV000474776 SCV000556407 benign Colorectal cancer, susceptibility to, 12 2017-11-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000427262 SCV000601987 likely benign not specified 2017-05-19 criteria provided, single submitter clinical testing

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