ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7443T>A (p.Thr2481=) (rs147757080)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228568 SCV000282821 likely benign Familial adenomatous polyposis 1 2017-03-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506206 SCV000600148 likely benign not specified 2017-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569491 SCV000672564 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000569491 SCV000681866 likely benign Hereditary cancer-predisposing syndrome 2016-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000842241 SCV000984246 likely benign not provided 2018-04-12 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.

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