ClinVar Miner

Variants studied for Charlevoix-Saguenay spastic ataxia

Included ClinVar conditions (1):
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
39 214 180 28 8 1 2 458

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 39 214 180 20 7 1 2 449
SACS, SGCG 0 0 0 8 1 0 0 9

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Counsyl 9 203 61 3 2 0 0 278
Illumina Clinical Services Laboratory,Illumina 0 0 109 22 2 0 0 133
Fulgent Genetics,Fulgent Genetics 2 0 12 0 0 0 0 14
OMIM 11 0 0 0 0 0 0 11
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
Baylor Genetics 3 1 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 4
GeneReviews 4 0 0 0 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 0 0 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 0 3
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 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
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 Genetic Testing 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
Codex Genetics Limited 0 1 0 0 0 0 0 1

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