ClinVar Miner

Variants studied for Charlevoix-Saguenay spastic ataxia

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
173 681 880 159 42 1 7 1732

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SACS 172 667 860 153 41 1 7 1694
LOC130009366, SACS 0 14 20 6 1 0 0 37
LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, SACS 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Natera, Inc. 29 145 497 84 32 0 0 787
Genome-Nilou Lab 33 26 114 99 24 0 0 296
Counsyl 8 202 60 3 2 0 0 275
Baylor Genetics 64 173 14 0 0 0 0 251
Illumina Laboratory Services, Illumina 0 1 224 4 0 0 0 229
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 75 36 4 0 0 0 133
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 40 19 0 0 0 0 0 59
Revvity Omics, Revvity 7 12 34 0 0 0 0 53
Myriad Genetics, Inc. 19 26 0 0 0 0 0 45
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 22
3billion 5 12 4 0 0 0 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 18 1 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 1 4 8 0 0 0 0 13
OMIM 11 0 0 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 6 0 0 0 0 10
Next Generation Genetic Polyclinic 2 8 0 0 0 0 0 10
Kariminejad - Najmabadi Pathology & Genetics Center 1 4 4 0 0 0 0 9
Medical Genetics Laboratory, Tarbiat Modares University 8 0 0 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 5 0 0 7
Mendelics 3 3 0 1 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 3 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 0 0 0 0 0 6
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
Variantyx, Inc. 2 4 0 0 0 0 0 6
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
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 2 0 0 0 0 0 4
Department of Genetics, Sultan Qaboos University Hospital 2 0 2 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 4 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 1 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 Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 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
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 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
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1

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