ClinVar Miner

Variants studied for Charlevoix-Saguenay spastic ataxia

Included ClinVar conditions (1):
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
71 218 393 75 31 1 2 725

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SACS 71 218 393 67 30 1 2 716
SACS, SGCG 0 0 0 8 1 0 0 9

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Counsyl 8 203 61 3 2 0 0 277
Illumina Clinical Services Laboratory,Illumina 0 0 233 26 2 0 0 261
Natera, Inc. 2 0 102 44 24 0 0 172
Paris Brain Institute,Inserm - ICM 22 0 0 0 0 0 0 22
Baylor Genetics 5 1 14 0 0 0 0 20
Fulgent Genetics,Fulgent Genetics 2 0 12 0 0 0 0 14
OMIM 11 0 0 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 7 2 0 0 0 0 0 9
Medical Genetics Laboratory,Tarbiat Modares University 8 0 0 0 0 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 5 0 0 7
Mendelics 1 3 0 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 4
GeneReviews 4 0 0 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, Oman 4 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
Pars Genome Lab 0 0 1 1 0 0 0 2
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
Codex Genetics Limited 0 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 0 1
CMT Laboratory,Bogazici University 1 0 0 0 0 0 0 1

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