ClinVar Miner

Variants studied for Charlevoix-Saguenay spastic ataxia

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Minimum submission review status: Collection method:
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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
138 470 616 180 43 1 7 1264

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SACS 137 464 604 165 41 1 7 1233
LOC130009366, SACS 0 6 12 7 1 0 0 21
SACS, SGCG 0 0 0 8 1 0 0 9
LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, SACS 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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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 24 0 0 296
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 14 0 0 0 0 251
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 31 30 16 0 0 0 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 18 0 0 0 0 0 42
Fulgent Genetics, Fulgent Genetics 6 4 28 4 0 0 0 42
Revvity Omics, Revvity 5 9 27 0 0 0 0 41
Myriad Genetics, Inc. 2 25 1 0 0 0 0 28
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 22
3billion 1 10 3 0 0 0 0 14
OMIM 11 0 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 3 7 0 0 0 0 10
Medical Genetics Laboratory, Tarbiat Modares University 8 0 0 0 0 0 0 8
Mendelics 3 3 0 1 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 5 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 5 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 1 4 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 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
GeneReviews 0 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 2 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 2 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 3 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 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
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
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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 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
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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1

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