ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2472A>T (p.Pro824=) (rs746965994)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566401 SCV000667720 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 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)
Invitae RCV000646632 SCV000768407 likely benign Familial adenomatous polyposis 1 2017-08-16 criteria provided, single submitter clinical testing
Color RCV000566401 SCV000904118 likely benign Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000843752 SCV000985790 likely benign not provided 2018-04-26 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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