ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2370G>A (p.Arg790=)

gnomAD frequency: 0.00777  dbSNP: rs112712209
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206250 SCV000262324 benign DICER1-related tumor predisposition 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000245682 SCV000314668 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000206250 SCV000389757 benign DICER1-related tumor predisposition 2018-01-12 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.
GeneDx RCV000245682 SCV000531877 benign not specified 2017-09-20 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.
Ambry Genetics RCV000492812 SCV000581558 benign Hereditary cancer-predisposing syndrome 2016-06-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727634 SCV002049911 benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000245682 SCV002066322 benign not specified 2021-06-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000245682 SCV002774368 benign not specified 2021-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494540 SCV002796197 benign Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2021-12-22 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316149 SCV004017396 benign Pleuropulmonary blastoma 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000245682 SCV004026706 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001727634 SCV005293416 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000245682 SCV001807595 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727634 SCV001969101 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245682 SCV001978287 benign not specified no assertion criteria provided clinical testing

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