ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6334C>T (p.Leu2112=) (rs373443211)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000988930 SCV000556254 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570651 SCV000671285 likely benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000600728 SCV000722168 likely benign not specified 2017-08-16 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.
Mendelics RCV000988930 SCV001138855 likely benign Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000464874 SCV001148874 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000600728 SCV001361242 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000570651 SCV000788189 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing

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