ClinVar Miner

Variants studied for autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome

Included ClinVar conditions (6):
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
71 18 397 338 56 1 875

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WWOX 56 15 299 282 46 1 694
MAF, WWOX 6 0 81 56 9 0 151
RUBCN 2 1 12 0 1 0 16
TDP2 4 1 0 0 0 0 5
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 2
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, CMIP, DYNLRB2, GAN, GCSH, MAF, PKD1L2, PLCG2, WWOX 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC113174982, TDP2 0 0 1 0 0 0 1
LOC132090428, LOC132090429, WWOX 0 0 1 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 60 14 380 336 52 0 842
Genome-Nilou Lab 0 0 0 0 38 0 38
Fulgent Genetics, Fulgent Genetics 2 0 11 2 1 0 16
Baylor Genetics 2 0 6 0 0 0 8
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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