ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)

dbSNP: rs875989779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota RCV000240939 SCV000195624 pathogenic DICER1-related tumor predisposition 2014-11-10 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000211120 SCV000267163 pathogenic Pineoblastoma 2014-07-15 criteria provided, single submitter research
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000240939 SCV001372185 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PVS1, PM2, PP4
Baylor Genetics RCV003468976 SCV004193461 pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-06-08 criteria provided, single submitter clinical testing

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