ClinVar Miner

Variants studied for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (10):
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 not provided total
51 25 356 123 97 6 627

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SIL1 22 7 139 98 18 0 265
FLVCR1 6 5 95 9 47 1 159
TWNK 9 10 63 7 7 4 93
FLVCR2 0 0 42 5 16 0 63
CTDP1 1 0 6 2 6 1 15
FXN 6 2 0 1 0 0 9
FLVCR1, LOC129932486 0 0 4 0 1 0 5
FXN, LOC130001862 2 1 1 0 1 0 5
LOC129994751, SIL1 0 0 4 1 0 0 5
FXN, LOC108510657 2 0 0 0 0 0 2
ATXN8, ATXN8OS 1 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 1
EIF2A 0 0 1 0 0 0 1
FLVCR1, LOC129932485 0 0 1 0 0 0 1
GJA3 1 0 0 0 0 0 1
PITRM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 224 26 76 0 327
Invitae 12 3 88 94 17 0 214
Revvity Omics, Revvity 3 3 56 0 0 0 62
OMIM 27 1 0 0 1 0 29
Baylor Genetics 2 0 11 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 1 6 3 1 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 9 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 7 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Mendelics 1 2 0 1 2 0 6
GeneReviews 0 0 0 0 0 5 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 3
3billion 0 1 2 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
King Laboratory, University of Washington 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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