ClinVar Miner

Variants in gene DICER1

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Gene type:

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
731 246 4212 2853 230 70 7682

Condition and significance breakdown #

Total conditions: 62
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DICER1-related tumor predisposition 583 124 2958 2141 155 8 5838
Hereditary cancer-predisposing syndrome 256 43 2567 1516 34 0 4345
not provided 57 60 409 227 94 0 812
not specified 7 4 123 226 63 16 394
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
Pleuropulmonary blastoma 23 9 25 10 26 1 94
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 6 3 61 13 8 0 90
Euthyroid goiter 9 4 6 1 3 0 23
Ovarian serous cystadenocarcinoma 0 0 0 0 0 16 16
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
Primary intracranial sarcoma, DICER1-mutant 8 0 1 0 0 0 9
Sertoli-Leydig cell tumor 9 0 0 0 0 0 9
Embryonal rhabdomyosarcoma 7 0 0 0 0 0 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Pineoblastoma 6 0 0 0 0 0 6
Rhabdomyosarcoma, embryonal, 2 5 0 1 0 0 0 6
Follicular thyroid carcinoma 5 0 0 0 0 0 5
Neoplasm 2 2 1 0 0 0 5
Papillary renal cell carcinoma type 1 0 0 0 0 0 4 4
Rhabdomyosarcoma 4 0 0 0 0 0 4
Sarcoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Autosomal dominant DICER1-related disorders 0 3 0 0 0 0 3
Breast neoplasm 0 0 1 2 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Papillary thyroid carcinoma 3 0 0 0 0 0 3
Familial prostate cancer 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Hereditary cancer 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Benign cystic nephroma 0 0 1 0 0 0 1
Cancer or benign tumor 0 0 1 0 0 0 1
Central nervous system mesenchymal non-meningothelial tumor 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Childhood kidney cell carcinoma; High-grade astrocytoma with piloid features 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 1 0 0 0 0 1
Euthyroid goiter; Pleuropulmonary blastoma 0 1 0 0 0 0 1
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma 1 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Juvenile polyps 1 0 0 0 0 0 1
Juvenile type testicular granulosa cell tumor 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 0 0 1 0 1
Medulloblastoma 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Neuroblastoma 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Ovarian gynandroblastoma 1 0 0 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
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 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: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 384 53 2867 2108 113 0 5525
Ambry Genetics 255 40 2481 1500 14 0 4290
GeneDx 30 5 253 84 64 0 436
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 9 5 79 191 31 0 315
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 154 55 39 0 253
Sema4, Sema4 1 1 132 91 24 0 249
PreventionGenetics, part of Exact Sciences 18 45 59 99 22 0 243
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 16 24 90 44 12 0 186
Illumina Laboratory Services, Illumina 0 2 68 15 67 0 152
CeGaT Center for Human Genetics Tuebingen 4 3 6 105 8 0 126
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
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 33 33 6 0 0 0 72
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 24 24 0 59
Breakthrough Genomics, Breakthrough Genomics 0 0 6 23 22 0 51
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 45 45
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 8 0 28 3 1 0 40
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
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 9 21 0 35
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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 9 5 2 0 0 0 16
OMIM 14 0 0 0 0 0 14
Revvity Omics, Revvity 0 0 13 1 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 5 5 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 7 4 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
Mendelics 0 0 5 4 1 0 10
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 3 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 5 0 7
Molecular Pathology, Peter Maccallum Cancer Centre 5 1 1 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 4 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 2 0 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 0 0 3
Dasa 1 0 0 1 1 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 1 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 1 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 3 0 0 0 3
Variantyx, Inc. 0 3 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 0 0 0 3
3billion 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Molecular Pathology Unit, Bambino Gesu' Children's Hospital, IRCCS 0 0 2 0 0 0 2
Pediatric Oncology, Johns Hopkins University 0 1 1 0 0 0 2
Swedish National ChiCaP Initative, Genomic Medicine Sweden 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 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 Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Helix 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 0 1 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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