ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7395T>C (p.Leu2465=) (rs369906346)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230882 SCV000282819 likely benign Familial adenomatous polyposis 1 2017-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000419288 SCV000512085 benign not specified 2015-06-25 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.
Ambry Genetics RCV000567583 SCV000667357 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 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)
Color RCV000567583 SCV000681863 likely benign Hereditary cancer-predisposing syndrome 2016-05-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758742 SCV000887552 likely benign not provided 2017-12-19 criteria provided, single submitter clinical testing

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