ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3033G>A (p.Ala1011=) (rs8019857)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493841 SCV000581591 benign Hereditary cancer-predisposing syndrome 2016-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000242614 SCV000521677 benign not specified 2016-06-16 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.
Illumina Clinical Services Laboratory,Illumina RCV000341694 SCV000389753 benign Pleuropulmonary blastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463316 SCV000563381 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-08-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242614 SCV000314670 benign not specified 2017-02-13 criteria provided, single submitter clinical testing

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