ClinVar Miner

Variants in gene DICER1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
665 188 3881 2613 226 22 7056

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DICER1-related tumor predisposition 541 77 2784 2010 152 5 5482
Hereditary cancer-predisposing syndrome 221 34 2237 1307 34 0 3767
not provided 55 57 356 165 86 0 691
not specified 7 4 114 194 45 16 348
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 11 18 286 0 0 0 315
DICER1-related disorder 1 3 43 88 5 0 140
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 6 3 61 13 8 0 90
Pleuropulmonary blastoma 12 6 26 14 30 1 89
Euthyroid goiter 9 3 6 1 3 0 22
Ovarian cancer 0 4 0 0 8 0 12
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; DICER1-related tumor predisposition 0 1 10 0 0 0 11
Pineoblastoma 6 0 0 0 0 0 6
Rhabdomyosarcoma, embryonal, 2 5 0 1 0 0 0 6
Breast neoplasm 0 0 1 2 0 0 3
Rhabdomyosarcoma 2 0 0 0 0 0 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Childhood kidney cell carcinoma; High-grade astrocytoma with piloid features 0 0 1 0 0 0 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Euthyroid goiter; Pleuropulmonary blastoma 0 1 0 0 0 0 1
Hereditary cancer 0 0 1 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 1
Medulloblastoma 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Pediatric high-grade glioma 0 0 1 0 0 0 1
Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Supratentorial primitive neuroectodermal tumor 0 1 0 0 0 0 1
Vertebral anomalies and variable endocrine and T-cell dysfunction 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 348 49 2699 1985 112 0 5193
Ambry Genetics 220 31 2152 1289 14 0 3706
GeneDx 29 4 227 84 64 0 408
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 249 23 36 25 1 0 333
Baylor Genetics 11 18 291 0 0 0 320
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 7 2 70 161 28 0 268
Sema4, Sema4 1 1 132 91 24 0 249
PreventionGenetics, part of Exact Sciences 18 45 59 99 22 0 243
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 113 39 28 0 185
Illumina Laboratory Services, Illumina 0 2 75 21 71 0 169
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 15 13 75 31 9 0 143
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge 3 2 63 39 1 0 108
Fulgent Genetics, Fulgent Genetics 1 2 71 9 1 0 84
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota 82 0 1 0 0 0 83
CeGaT Center for Human Genetics Tuebingen 3 3 6 59 7 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 23 17 0 51
Breakthrough Genomics, Breakthrough Genomics 0 0 6 23 22 0 51
Department of Pathology and Laboratory Medicine, Sinai Health System 7 2 7 8 14 0 38
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 8 26 0 35
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 0 25 2 1 0 34
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 22 0 0 0 22
Genetic Services Laboratory, University of Chicago 0 0 6 6 4 0 16
ITMI 0 0 0 0 0 16 16
OMIM 14 0 0 0 0 0 14
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 7 4 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 5 5 0 12
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 8 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 8 0 1 1 0 0 10
Revvity Omics, Revvity 0 0 8 1 0 0 9
Mendelics 0 0 4 4 1 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 3 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 5 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 5 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 4 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 2 0 4
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Pediatric Oncology, Johns Hopkins University 0 1 1 0 0 0 2
3billion 0 2 0 0 0 0 2
Swedish National ChiCaP Initative, Genomic Medicine Sweden 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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