ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4135G>T (p.Glu1379Ter)

dbSNP: rs121913326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003335318 SCV004044545 pathogenic Familial adenomatous polyposis 1 2023-05-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Database of Curated Mutations (DoCM) RCV000426216 SCV000505003 likely pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725179 SCV001960089 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725179 SCV001965778 pathogenic not provided no assertion criteria provided clinical testing

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