ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6360_6377delinsAA (p.Ala2121fs)

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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. RCV003337505 SCV004043746 pathogenic Familial adenomatous polyposis 1 2023-05-15 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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