ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6777G>C (p.Arg2259=) (rs540203276)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562776 SCV000671495 likely benign Hereditary cancer-predisposing syndrome 2016-06-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760037 SCV000889787 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV000760037 SCV001004609 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing

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