ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) (rs117358479)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493327 SCV000581579 likely benign Hereditary cancer-predisposing syndrome 2018-04-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433632 SCV000511189 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000120631 SCV000729805 likely benign not specified 2017-08-21 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 RCV000120631 SCV000084792 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000344796 SCV000389773 likely benign Pleuropulmonary blastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206043 SCV000262404 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-01-10 criteria provided, single submitter clinical testing

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