ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3654G>A (p.Thr1218=) (rs772743023)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434640 SCV000534558 likely benign not specified 2016-12-05 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.
Invitae RCV000467823 SCV000562589 likely benign Familial adenomatous polyposis 1 2016-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565007 SCV000667305 likely benign Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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