ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2614G>A (p.Ala872Thr) (rs149242330)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226630 SCV000291641 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301877 SCV000389755 likely benign Pleuropulmonary blastoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567312 SCV000661816 likely benign Hereditary cancer-predisposing syndrome 2017-10-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000120636 SCV000731048 likely benign not specified 2017-08-02 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.
ITMI RCV000120636 SCV000084797 not provided not specified 2013-09-19 no assertion provided reference population

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