ClinVar Miner

Variants studied for X-linked progressive cerebellar ataxia

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Minimum submission review status: Collection method:
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Gene type:
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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
1 2 16 2 12 33

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
ATP2B3 1 2 16 2 12 33

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 10 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 7
Baylor Genetics 0 1 5 0 0 6
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 1
3billion 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1

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