ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3647C>A (p.Ser1216Ter)

dbSNP: rs1891128178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV001201012 SCV001371999 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PSV1, PM2, PM7, PP1, PP4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001201012 SCV005689675 pathogenic DICER1-related tumor predisposition 2025-01-24 criteria provided, single submitter clinical testing The following ACMG criteria have been used in classification: PM2_SUP; PVS1; PS4_SUP

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