ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3349del (p.Ser1117fs)

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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. RCV003475565 SCV004043566 pathogenic Familial adenomatous polyposis 1 2023-05-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003475565 SCV004200408 pathogenic Familial adenomatous polyposis 1 2021-08-27 criteria provided, single submitter clinical testing

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