ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1720G>T (p.Glu574Ter)

dbSNP: rs1764024563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253489 SCV001429218 pathogenic Familial adenomatous polyposis 1 2019-08-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262201 SCV001439988 pathogenic Colorectal cancer 2019-01-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001253489 SCV004043376 pathogenic Familial adenomatous polyposis 1 2023-05-02 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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