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
44 20 64 8 10 5 145

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13D 12 11 37 2 1 1 63
PNKP 8 4 21 4 2 0 37
RFC1 10 1 2 0 5 4 21
SCYL1 13 3 3 1 0 0 19
SYT14 1 0 1 1 2 0 4
ELF2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 28 0 0 0 0 0 28
Baylor Genetics 3 2 21 0 0 0 26
Fulgent Genetics, Fulgent Genetics 0 1 14 5 1 0 21
Genome-Nilou Lab 0 0 0 1 7 0 8
Revvity Omics, Revvity 1 1 3 0 0 0 5
GeneReviews 0 0 0 0 1 4 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 0 0 5
3billion 2 2 1 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 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
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
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 2 0 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
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
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
New York Genome Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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