ClinVar Miner

Variants studied for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (9):
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
38 15 247 36 90 416

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FLVCR1 5 4 96 8 48 159
TWNK 7 8 60 7 7 88
SIL1 14 2 48 14 13 84
FLVCR2 0 0 33 5 10 48
FLVCR2, LOC102724153 0 0 9 0 6 15
FXN 8 1 1 1 1 12
CTDP1 1 0 0 1 4 6
ATXN8, ATXN8OS 1 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 1
FXN, LOC108510657 1 0 0 0 0 1
PITRM1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 224 26 76 327
Invitae 2 0 9 9 11 31
OMIM 27 1 0 0 1 29
Baylor Genetics 3 0 10 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 9 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 7 7
Mendelics 1 2 0 1 2 6
GeneReviews 4 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 0 0 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 3
King Laboratory,University of Washington 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
IRCCS Fondazione Stella Maris,University of Pisa 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 1

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