ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3933del (p.Ile1311fs)

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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 RCV004801971 SCV005420925 pathogenic Familial adenomatous polyposis 1 criteria provided, single submitter clinical testing This variant is considered pathogenic. PVS1 - this variant creates a stop codon at Val1320 position. PP4 - patient's phenotype is highly specific for a disease with a single genetic aetiology. PM2 - variant is absent in Gnomad database.

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