ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1908-4A>G

gnomAD frequency: 0.00123  dbSNP: rs112284114
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233378 SCV000291626 benign DICER1-related tumor predisposition 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576056 SCV000661806 likely benign Hereditary cancer-predisposing syndrome 2019-02-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GeneDx RCV001722267 SCV000725205 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000233378 SCV001280097 benign DICER1-related tumor predisposition 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001722267 SCV002049457 likely benign not provided 2021-07-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000576056 SCV002532482 benign Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002500824 SCV002811980 likely benign Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2021-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722267 SCV005075453 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing DICER1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001722267 SCV005210866 likely benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.