ClinVar Miner

Variants in gene DICER1

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Gene type:
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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
213 57 1208 763 77 16 2218

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 99 6 663 406 10 0 1184
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 137 10 821 93 7 0 1068
not provided 25 46 34 466 59 0 617
Pleuropulmonary blastoma 6 0 36 52 17 0 111
not specified 0 0 3 37 22 16 67
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
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 5 0 0 0 0 0 5
GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR 2 0 0 0 0 0 2
Medulloblastoma 0 0 2 0 0 0 2
Neuroblastoma 0 0 2 0 0 0 2
Rhabdomyosarcoma, embryonal, 2 2 0 0 0 0 0 2
Acute megakaryoblastic leukemia 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 1 0 0 0 1
Anophthalmia - microphthalmia 0 0 0 1 0 0 1
Diffuse astrocytoma 0 0 1 0 0 0 1
Ganglioneuroblastoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 10 819 545 61 0 1506
Ambry Genetics 99 6 663 406 10 0 1184
PreventionGenetics,PreventionGenetics 13 45 22 13 18 0 111
Illumina Clinical Services Laboratory,Illumina 0 0 36 52 17 0 105
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
ITMI 0 0 0 0 0 16 16
OMIM 14 0 0 0 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 3 0 0 12
Fulgent Genetics,Fulgent Genetics 0 1 10 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 4 0 8
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 7 0 0 0 7
Mendelics 0 0 1 4 1 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 0 1

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