ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6514G>T (p.Glu2172Ter)

dbSNP: rs864622314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268811 SCV002550644 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003337393 SCV004043864 pathogenic Familial adenomatous polyposis 1 2023-05-15 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.

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