ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5304G>A (p.Lys1768=) (rs863224285)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200536 SCV000252931 likely benign Familial adenomatous polyposis 1 2017-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570509 SCV000667346 likely benign Hereditary cancer-predisposing syndrome 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000608378 SCV000694073 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000608378 SCV000716616 likely benign not specified 2017-03-03 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.
Color RCV000570509 SCV000906744 likely benign Hereditary cancer-predisposing syndrome 2018-11-01 criteria provided, single submitter clinical testing

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