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
36 206 180 27 8 1 2 448

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 36 206 180 19 7 1 2 439
SACS, SGCG 0 0 0 8 1 0 0 9

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Counsyl 9 200 61 3 2 0 0 275
Illumina Clinical Services Laboratory,Illumina 0 0 109 22 2 0 0 133
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
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 3
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
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
Mendelics 0 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 0 1

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