ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4206+9G>T

gnomAD frequency: 0.26377  dbSNP: rs1778057
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005400442 SCV006055346 benign Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2022-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714912 SCV005293412 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316478 SCV004017388 benign Pleuropulmonary blastoma 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000851470 SCV002568053 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000472992 SCV001876749 benign DICER1-related tumor predisposition 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660646 SCV001876748 benign Euthyroid goiter 2021-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000851470 SCV000993755 benign not specified 2019-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000472992 SCV000563391 benign DICER1-related tumor predisposition 2025-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000472992 SCV000389743 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000851470 SCV001965259 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000851470 SCV001951702 benign not specified no assertion criteria provided clinical testing

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