ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.5145C>T (p.Leu1715=) (rs139500905)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204314 SCV000262170 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293017 SCV000389732 likely benign Pleuropulmonary blastoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566415 SCV000661810 likely benign Hereditary cancer-predisposing syndrome 2016-10-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000605909 SCV000731047 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000605909 SCV000993763 benign not specified 2017-04-29 criteria provided, single submitter clinical testing

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