ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1924-6del (rs758112633)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480883 SCV000570886 likely benign not specified 2017-12-06 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 RCV000480883 SCV000601991 uncertain significance not specified 2017-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759983 SCV000889720 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV001087458 SCV001009667 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing

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