ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) (rs5744800)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232970 SCV000289285 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000236002 SCV000293929 likely benign not specified 2017-10-17 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 RCV000564453 SCV000671269 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
University of Washington Department of Laboratory Medicine, University of Washington RCV000232970 SCV000788249 benign Colorectal cancer, susceptibility to, 12 2018-02-08 criteria provided, single submitter clinical testing The POLE p.697A variant was seen as homozygous in an unaffected adult with no personal history of colon cancer, polyposis, or other POLE-related disease, indicating that this variant is benign.

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