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
45 25 99 21 8 180

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pol III-related leukodystrophy 0 0 82 17 8 107
not provided 7 8 14 3 0 31
Hypomyelinating leukodystrophy 7 25 1 5 0 0 30
Neonatal pseudo-hydrocephalic progeroid syndrome 18 15 1 0 0 24
not specified 0 0 1 3 0 4
Leukodystrophy, hypomyelinating, 4 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 total
Illumina Clinical Services Laboratory,Illumina 0 0 83 17 8 108
OMIM 20 0 0 0 0 20
GeneDx 4 8 6 1 0 19
GeneReviews 17 0 0 0 0 17
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 15 0 0 0 15
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 5
Genetic Services Laboratory, University of Chicago 1 0 1 2 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 1

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