ClinVar Miner

Variants studied for Autosomal recessive spinocerebellar ataxia 20

Coded as:
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
15 12 16 1 0 2 43

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
SNX14 15 12 15 1 2 42
MT-CYB 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Baylor Genetics 0 0 9 0 0 9
OMIM 8 0 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
Illumina Laboratory Services, Illumina 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Revvity Omics, Revvity 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.