ClinVar Miner

Variants studied for Congenital myotonia, autosomal recessive 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 affects not provided total
51 32 29 0 10 1 1 113

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign affects not provided total
CLCN1 49 29 28 10 1 1 107
CLCN1, LOC123956257 1 3 1 0 0 0 5
CLCN1, FAM131B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance benign affects not provided total
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 9 5 0 1 0 26
MGZ Medical Genetics Center 8 4 4 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 3 0 0 0 0 15
OMIM 14 0 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 4 0 0 0 11
Genome-Nilou Lab 0 0 0 10 0 0 10
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 2 4 0 0 0 10
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 2 2 0 0 0 7
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 4 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
Mendelics 1 1 1 1 0 0 4
3billion 3 0 1 0 0 0 4
Baylor Genetics 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 2 0 0 0 0 0 2
Invitae 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Arcensus 0 0 1 0 0 0 1

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