ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2340G>C (p.Ser780=) (rs5744822)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000759986 SCV000556264 likely benign not provided 2018-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565252 SCV000671613 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759986 SCV000889724 likely benign not provided 2017-12-15 criteria provided, single submitter clinical testing

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