ClinVar Miner

Submissions for variant NM_000038.6(APC):c.841dup (p.Thr281fs)

dbSNP: rs2149762397
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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. RCV003337366 SCV004044774 pathogenic Familial adenomatous polyposis 1 2023-04-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356912 SCV001552199 uncertain significance not provided no assertion criteria provided clinical testing

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