ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.819A>G (p.Ala273=) (rs1185171180)

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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 RCV000566922 SCV000671327 likely benign Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001089416 SCV001031322 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000887742 SCV001148909 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing

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