ClinVar Miner

Variants studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (73):
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
564 130 1148 290 287 1 2271

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 75 12 119 26 29 0 242
CPLANE1 65 12 122 40 36 0 232
CC2D2A 49 7 95 20 8 0 168
AHI1 50 8 56 22 23 0 147
RPGRIP1L 32 8 79 14 12 0 139
TMEM67 47 12 54 3 7 0 116
INPP5E 18 3 40 23 20 0 92
MKS1 20 23 42 7 3 0 90
CEP41 4 0 65 13 6 0 86
TTC21B 0 0 59 14 5 0 78
OFD1 21 2 25 7 22 0 77
ATCAY 1 0 52 16 4 0 73
TMEM237 7 3 50 6 3 0 66
ZNF423 1 1 24 11 25 0 60
ARL13B 7 1 40 9 3 0 58
TCTN2 13 0 31 7 14 0 58
KIAA0586 20 3 11 4 17 0 55
TMEM216 5 12 30 4 5 0 53
CSPP1 24 1 12 2 4 0 43
TCTN1 4 0 22 13 7 0 39
TMEM138 5 0 26 1 1 0 31
TMEM231 6 1 10 6 7 0 30
NPHP1 1 0 22 3 1 0 27
CEP104 7 1 7 0 9 0 24
B9D1 6 1 5 2 3 0 16
TCTN3 3 0 5 3 3 0 13
ARMC9 9 1 2 0 0 0 12
WDR73 9 2 0 0 0 0 11
C12orf29, CEP290 0 2 7 1 0 0 10
VLDLR 6 1 2 1 0 0 10
ATP6V0A2, TCTN2 0 0 1 6 2 0 9
ARFGEF1, CSPP1 2 0 3 1 3 0 8
B9D2 3 1 2 1 1 0 8
PIBF1 6 2 1 0 0 0 8
SUFU 2 0 6 0 0 0 8
CYB561A3, TMEM138 0 0 6 1 0 0 7
WDR81 2 0 2 0 2 1 7
PMPCA 6 0 0 0 0 0 6
ATP8A2 1 1 3 0 0 0 5
CEP120 5 0 0 0 0 0 5
CWF19L1 3 1 1 0 0 0 5
ZNF592 0 0 3 0 2 0 5
CA8 2 2 0 0 0 0 4
C2CD3 3 0 0 0 0 0 3
IFT140 3 0 0 0 0 0 3
KIAA0753 3 0 0 0 0 0 3
PDE6D 1 1 0 1 0 0 3
CLUAP1 0 2 0 0 0 0 2
CPLANE1, LOC105374727 0 0 1 1 0 0 2
KIAA0556 2 1 0 0 0 0 2
USH2A 0 0 2 0 0 0 2
​intergenic 1 0 0 0 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 0 1
EXOC8 0 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT172 1 0 0 0 0 0 1
KIF7 0 0 1 0 0 0 1
LRRCC1 0 1 0 0 0 0 1
MICALL2 1 0 0 0 0 0 1
RCOR1 0 1 0 0 0 0 1
SLC30A7 1 0 0 0 0 0 1
WDPCP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 739 153 40 0 933
Invitae 178 29 319 117 241 0 883
UW Hindbrain Malformation Research Program,University of Washington 265 13 0 0 0 0 278
OMIM 169 0 5 0 0 0 174
Fulgent Genetics,Fulgent Genetics 20 5 56 1 0 0 82
Counsyl 2 30 32 5 0 0 69
Genomic Research Center,Shahid Beheshti University of Medical Sciences 7 4 14 2 0 0 27
Genetic Services Laboratory, University of Chicago 14 6 6 0 0 0 26
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 8 0 21
Broad Institute Rare Disease Group,Broad Institute 2 9 9 0 0 0 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 12 0 14
GeneReviews 13 0 0 0 0 0 13
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 5 0 0 0 0 8
Baylor Genetics 2 1 4 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 4 0 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 7 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 1 2 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 2 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 4 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 2 0 2 0 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 3 0 0 0 0 4
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 3 0 0 0 0 0 3
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 3 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Mendelics 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 0 0 0 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 0 2 0 0 0 0 2
Institute of Human Genetics,Heidelberg University 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 0 0 0 0 1
Kasturba Medical College,Manipal University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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