ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3542T>A (p.Leu1181Ter)

dbSNP: rs1554085102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000503307 SCV000591147 pathogenic Familial multiple polyposis syndrome 2015-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003337299 SCV004044705 pathogenic Familial adenomatous polyposis 1 2023-05-09 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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