ClinVar Miner

Variants studied for Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

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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
13 11 39 2 1 1 66

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13D 13 11 39 2 1 1 66

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 0 1 13 0 0 0 14
OMIM 7 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 6
Revvity Omics, Revvity 0 1 3 0 0 0 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
3billion 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 1 1 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
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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