ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000989258 SCV000262404 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989258 SCV000389773 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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.
Ambry Genetics RCV000493327 SCV000581579 likely benign Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign);Subpopulation frequency in support of benign classification;RNA Studies
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.
Mendelics RCV000989258 SCV001139513 likely benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000433632 SCV001149328 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
ITMI RCV000120631 SCV000084792 not provided not specified 2013-09-19 no assertion provided reference population
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000120631 SCV001371880 likely benign not specified 2019-07-01 no assertion criteria provided literature only

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