ClinVar Miner

Variants studied for X-linked cerebellar ataxia

Included ClinVar conditions (5):
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 total
29 9 92 31 32 191

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC9A6 18 5 58 28 14 121
PRPS1 4 1 18 2 8 33
ABCB7 4 1 9 0 4 18
ATP2B3 1 2 6 1 6 16
FHL1, SLC9A6 0 0 1 0 0 1
FMR1 1 0 0 0 0 1
FMR1, FRAXA, LOC107032825 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 2 53 27 13 98
Illumina Clinical Services Laboratory,Illumina 0 0 23 2 10 35
OMIM 16 0 0 0 0 16
Baylor Genetics 0 2 7 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 7 9
GeneReviews 6 0 0 0 2 8
Genetic Services Laboratory, University of Chicago 2 1 3 0 0 6
Mendelics 0 1 0 0 2 3
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 1

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