ClinVar Miner

Variants in gene POLR3A

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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 total
54 41 148 72 57 322

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypomyelinating leukodystrophy 7 30 4 111 24 40 206
not provided 17 15 32 50 30 131
Neonatal pseudo-hydrocephalic progeroid syndrome 18 22 3 0 0 27
Pol III-related leukodystrophy 0 0 7 0 0 7
not specified 0 0 1 2 1 4
Wiedemann-Rautenstrauch-like progeroid syndrome 0 3 0 0 0 3
POLR3A-related neurological disorders 1 1 0 0 0 2
Leukodystrophy, hypomyelinating, 4 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 104 24 40 170
Invitae 2 0 10 43 30 85
CeGaT Praxis fuer Humangenetik Tuebingen 3 5 12 4 0 24
GeneDx 7 8 7 1 0 23
OMIM 20 0 0 0 0 20
GeneReviews 17 0 0 0 0 17
Baylor Genetics 4 2 9 0 0 15
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 15 0 0 0 15
University of Washington Center for Mendelian Genomics, University of Washington 0 11 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 1 0 0 0 11
Cole/Wambach Lab,Washington University in St. Louis 9 1 0 0 0 10
MyeliNeuroGene Lab,McGill University Health Center Research Institute 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 0 3 0 6
Genetic Services Laboratory, University of Chicago 1 0 1 1 1 4
Institute of Human Genetics, Klinikum rechts der Isar 4 0 0 0 0 4
Mendelics 2 0 0 0 1 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Kasturba Medical College, Manipal University 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 1 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1
DESAM Institute,Near East University 1 0 0 0 0 1

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