ClinVar Miner

Variants studied for Dystonia 24

Coded as:
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
5 3 18 2 41 68

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ANO3 5 3 18 2 39 66
ANO3, MUC15 0 0 0 0 2 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 41 41
Revvity Omics, Revvity 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 3 0 0 0 4
New York Genome Center 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 1

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