ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1369del (p.Ser457fs)

dbSNP: rs387906229
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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. RCV003335003 SCV004045552 pathogenic Familial adenomatous polyposis 1 2023-05-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
OMIM RCV000000831 SCV000020981 pathogenic Familial adenomatous polyposis 1 1991-08-09 no assertion criteria provided literature only

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