ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2830C>T (p.Arg944Ter) (rs137852978)

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Total submissions: 3
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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 RCV000240862 SCV000195593 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2014-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000493701 SCV000581602 pathogenic Hereditary cancer-predisposing syndrome 2017-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
OMIM RCV000004727 SCV000024903 pathogenic Pleuropulmonary blastoma 2009-08-21 no assertion criteria provided literature only

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