ClinVar Miner

Submissions for variant NM_000038.6(APC):c.583_586dup (p.Ile196fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Molecular Genetics Centre of Cancer Research, N.N. Alexandrov National Cancer Centre of Belarus RCV004812538 SCV005420926 pathogenic Familial adenomatous polyposis 1 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG 2015 criteria were applied: PVS1 (frameshift), PM2 (absent in Gnomad), PP4 (phenotype).

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