ClinVar Miner

Variants studied for Congenital myotonia, autosomal dominant form

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 not provided total
30 22 18 0 10 1 76

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
CLCN1 29 21 18 10 1 74
CLCN1, FAM131B 1 0 0 0 0 1
CLCN1, LOC123956257 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 5 5 4 0 0 14
Genome-Nilou Lab 0 0 0 10 0 10
OMIM 9 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 4 1 0 0 9
MGZ Medical Genetics Center 4 0 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 3 0 0 0 6
Baylor Genetics 3 0 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
DASA 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Mendelics 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis, University of Liege 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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