ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3787del (p.Cys1263fs)

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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. RCV003334793 SCV004044641 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003334793 SCV004805292 likely pathogenic Familial adenomatous polyposis 1 2024-03-25 criteria provided, single submitter research

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