ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3559dup (p.Ile1187fs)

dbSNP: rs2533507734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003224985 SCV003921048 pathogenic Familial adenomatous polyposis 1 2023-02-20 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP

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