ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3715A>C (p.Arg1239=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002293658 SCV002586506 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV004565259 SCV004931427 benign Familial adenomatous polyposis 1 2024-03-22 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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