ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3784del (p.Tyr1262fs)

dbSNP: rs2149898912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) RCV001843600 SCV002102504 pathogenic Familial adenomatous polyposis 1 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001843600 SCV004045492 pathogenic Familial adenomatous polyposis 1 2023-05-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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