ClinVar Miner

Variants studied for neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Included ClinVar conditions (1):
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
9 10 10 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ADPRS 9 10 10 24

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 8 0 0 8
Baylor Genetics 0 0 3 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 2
Mendelics 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 2
Hadassah Hebrew University Medical Center 0 2 0 2
3billion 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 2
Revvity Omics, Revvity 0 0 1 1
Institute of Human Genetics, Cologne University 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 1 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 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 1
Solve-RD Consortium 0 1 0 1

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