ClinVar Miner

Variants studied for autosomal recessive syndromic cerebellar ataxia

Included ClinVar conditions (7):
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 not provided total
48 26 74 8 10 5 165

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13D 13 11 42 2 1 1 69
PNKP 8 5 24 4 2 0 41
RFC1 11 3 2 0 5 4 24
SCYL1 15 6 3 1 0 0 24
SYT14 1 0 2 1 2 0 5
ELF2 0 1 0 0 0 0 1
TMEM240 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 29 0 0 0 0 0 29
Baylor Genetics 3 2 21 0 0 0 26
Fulgent Genetics, Fulgent Genetics 0 1 19 5 1 0 26
Genome-Nilou Lab 0 0 0 1 7 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 4 4 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 0 7
Revvity Omics, Revvity 1 1 3 0 0 0 5
GeneReviews 0 0 0 0 1 4 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 4 0 0 0 5
3billion, Medical Genetics 2 2 1 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 1 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Mendelics 1 0 0 1 0 0 2
Neurogenetics Research; Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
New York Genome Center 0 0 2 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 1

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