ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1866C>T (p.Ile622=) (rs1060504068)

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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 RCV000575695 SCV000671566 likely benign Hereditary cancer-predisposing syndrome 2016-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000469373 SCV000556389 likely benign Colorectal cancer, susceptibility to, 12 2017-09-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679608 SCV000806731 likely benign not provided 2017-10-16 criteria provided, single submitter clinical testing

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