ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4416A>C (p.Val1472=) (rs773352404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554961 SCV000647515 likely benign Familial adenomatous polyposis 1 2017-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000616218 SCV000716483 likely benign not specified 2017-02-24 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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