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
190 12 742 458 66 16 1405

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 125 8 625 329 52 0 1139
Hereditary cancer-predisposing syndrome 89 3 207 176 10 0 485
Pleuropulmonary blastoma 6 0 36 52 17 0 111
not specified 0 0 1 36 16 16 61
not provided 12 1 4 1 0 0 18
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
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
Medulloblastoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 8 624 329 52 0 1069
Ambry Genetics 89 3 207 176 10 0 485
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 31 11 0 58
PreventionGenetics 0 0 0 5 11 0 16
ITMI 0 0 0 0 0 16 16
OMIM 14 0 0 0 0 0 14
Fulgent Genetics 0 1 10 0 0 0 11
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 7 0 0 0 7
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1

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