ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4606G>T (p.Glu1536Ter)

dbSNP: rs1554086001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004563074 SCV004044798 pathogenic Familial adenomatous polyposis 1 2023-05-11 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358112 SCV001553765 uncertain significance not provided no assertion criteria provided clinical testing

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