ClinVar Miner

Variants studied for autosomal recessive spastic ataxia

Included ClinVar conditions (9):
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 affects not provided total
177 586 654 181 53 1 16 1441

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SACS 149 561 610 165 41 1 7 1328
NKX6-2 12 11 6 1 1 0 8 26
AFG3L2 11 3 9 0 4 0 1 25
LOC130009366, SACS 0 10 12 7 1 0 0 25
MTPAP 1 0 8 0 2 0 0 11
SACS, SGCG 0 0 0 8 1 0 0 9
MARS2 2 0 4 0 1 0 0 7
AFG3L2, TUBB6 0 0 4 0 1 0 0 5
LOC129935364, MARS2 1 1 0 0 0 0 0 2
LOC129935366, MARS2 0 0 1 0 0 0 0 1
LOC130003597, MTPAP 0 0 0 0 1 0 0 1
LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, SACS 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Natera, Inc. 18 3 251 83 32 0 0 387
Genome-Nilou Lab 33 26 114 99 33 0 0 305
Counsyl 8 202 60 3 2 0 0 275
Illumina Laboratory Services, Illumina 0 1 233 26 2 0 0 262
Baylor Genetics 64 173 24 0 0 0 0 261
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 53 101 16 0 0 0 0 170
Fulgent Genetics, Fulgent Genetics 18 76 40 4 1 0 0 139
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 19 0 0 0 0 0 47
Revvity Omics, Revvity 7 9 28 0 0 0 0 44
OMIM 28 0 0 0 0 0 0 28
Myriad Genetics, Inc. 2 25 1 0 0 0 0 28
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 1 4 10 0 0 0 0 15
3billion, Medical Genetics 1 10 3 0 0 0 0 14
Yale Center for Mendelian Genomics, Yale University 8 5 0 0 0 0 0 13
GeneReviews 0 0 0 0 0 0 12 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 6 1 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 7 0 0 9
Mendelics 4 3 0 1 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 4 0 0 0 0 8
Medical Genetics Laboratory, Tarbiat Modares University 8 0 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 3 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 4 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 5 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 1 4 1 0 0 0 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 2 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 1 0 0 0 0 5
Pars Genome Lab 0 0 1 4 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 0 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 2 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 2 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 3 1 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 1 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 1 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 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. 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.