ClinVar Miner

Variants studied for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
18 24 80 8 13 52 155

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLR3B 18 22 49 8 8 42 112
LOC100287944, POLR3B 0 2 30 0 5 10 42
LOC130008660, POLR3B 0 0 1 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
Illumina Laboratory Services, Illumina 0 0 49 8 13 0 70
GeneReviews 0 0 0 0 0 52 52
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 12 21 0 0 0 38
OMIM 12 0 0 0 0 0 12
Baylor Genetics 4 1 4 0 0 0 9
Undiagnosed Diseases Network, NIH 2 1 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Biochimie-Hormonologie, Robert Debre Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 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 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1

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