ClinVar Miner

Variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Included ClinVar conditions (1):
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
13 19 19 2 7 58

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP8A2 13 19 19 2 7 58

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Revvity Omics, Revvity 1 3 4 0 0 8
Genome-Nilou Lab 0 0 0 0 7 7
OMIM 5 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 5
3billion 2 1 1 1 0 5
Baylor Genetics 1 2 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 3
Medical Genetics Laboratory, Tarbiat Modares University 0 1 2 0 0 3
Mendelics 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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