ClinVar Miner

Variants in gene DICER1

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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
402 93 1838 910 119 16 3193

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 344 39 1541 652 108 0 2644
Hereditary cancer-predisposing syndrome 99 7 659 410 10 0 1185
not provided 26 47 38 173 9 0 290
not specified 7 4 38 57 21 16 125
Pleuropulmonary blastoma 6 0 7 6 4 0 23
none provided 0 0 3 3 12 0 18
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 8 1 3 0 0 0 12
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 0 1 10 0 0 0 11
Pineoblastoma 6 0 0 0 0 0 6
Breast neoplasm 0 0 1 2 0 0 3
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2 1 0 0 0 0 3
Rhabdomyosarcoma, embryonal, 2 3 0 0 0 0 0 3
Rhabdomyosarcoma (disease) 2 0 0 0 0 0 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 1
Medulloblastoma 0 0 1 0 0 0 1
Supratentorial primitive neuroectodermal tumor 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 130 19 1472 722 66 0 2409
Ambry Genetics 99 6 659 410 10 0 1184
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 246 22 36 25 1 0 329
Illumina Clinical Services Laboratory,Illumina 0 0 79 21 74 0 174
PreventionGenetics, PreventionGenetics 13 45 22 13 18 0 111
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 82 0 1 0 0 0 83
GeneDx 12 0 4 34 16 0 66
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 4 12 0 21
ITMI 0 0 0 0 0 16 16
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 8 4 0 0 15
OMIM 14 0 0 0 0 0 14
Fulgent Genetics,Fulgent Genetics 0 1 10 0 0 0 11
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 6 2 1 0 9
Baylor Genetics 3 1 4 0 0 0 8
Mendelics 0 0 1 4 1 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 1 1 2 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 1 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Pediatric Oncology, Johns Hopkins University 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 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
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
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

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