ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2093T>A (p.Leu698Ter)

dbSNP: rs137854582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310095 SCV001499604 pathogenic Familial adenomatous polyposis 1 2020-04-02 criteria provided, single submitter clinical testing
OMIM RCV000000875 SCV000021025 pathogenic Gardner syndrome 1999-01-01 no assertion criteria provided literature only

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