ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7185_7187delinsATACTTCCACTTGGAA (p.Ser2396fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004566111 SCV004044485 pathogenic Familial adenomatous polyposis 1 2023-05-16 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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