ClinVar Miner

Variants studied for Myoclonic dystonia 11

Coded as:
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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
121 19 289 156 22 590

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CASD1, SGCE 107 18 250 142 22 524
SGCE 12 1 38 14 0 63
ASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2 1 0 0 0 0 1
CASD1, COL1A2, LOC129998822, LOC129998823, LOC129998824, LOC129998825, SGCE 1 0 0 0 0 1
DRD2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 93 7 264 153 14 531
Revvity Omics, Revvity 4 1 32 0 0 37
Illumina Laboratory Services, Illumina 1 0 10 4 10 25
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 4 0 0 0 15
OMIM 12 0 1 0 0 13
Baylor Genetics 1 1 3 0 0 5
MGZ Medical Genetics Center 3 0 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 4
3billion, Medical Genetics 1 0 3 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
Mendelics 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 2 0 0 3
Athena Diagnostics 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Geriatric Neurology, Shaanxi Provincial People's Hospital 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Université Mohamed IV des Sciences de la Santé, Hopital Cheikh Khalifa 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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