ClinVar Miner

Variants studied for Spinocerebellar ataxia type 13

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 total
5 2 22 8 4 39

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNC3 4 2 19 8 4 35
KCNC3, LOC111811967 1 0 2 0 0 3
KCNC3, LOC130064972 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 3 3 0 7
Revvity Omics, Revvity 0 0 6 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 3 5
O&I group, Department of Genetics, University Medical Center of Groningen 2 1 2 0 0 5
Baylor Genetics 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 1 3
OMIM 3 0 0 0 0 3
3billion 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Mendelics 0 0 1 1 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.