ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4212C>T (p.Ser1404=) (rs144655979)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464753 SCV000562666 likely benign Familial adenomatous polyposis 1 2017-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492038 SCV000579832 likely benign Hereditary cancer-predisposing syndrome 2016-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000492038 SCV000681657 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000615951 SCV000718252 likely benign not specified 2017-04-05 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732075 SCV000859977 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing

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