ClinVar Miner

Variants studied for Congenital myotonia, autosomal recessive form

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
72 63 36 0 10 1 1 161

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign affects not provided total
CLCN1 69 59 34 10 1 1 152
CLCN1, LOC123956257 2 4 1 0 0 0 7
​intergenic 0 0 1 0 0 0 1
CLCN1, FAM131B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance benign affects not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 15 0 0 0 0 42
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
Neuberg Centre For Genomic Medicine, NCGM 5 6 5 0 0 0 16
OMIM 14 0 0 0 0 0 14
Kariminejad - Najmabadi Pathology & Genetics Center 4 7 1 0 0 0 12
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
3billion 5 2 2 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 6 0 2 0 0 0 8
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 2 2 0 0 0 7
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 4 1 0 0 0 5
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 0 2 0 0 0 5
Baylor Genetics 2 1 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
Mendelics 1 1 1 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 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
Institute of Human Genetics, Heidelberg University 0 1 0 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
Genomics, Clalit Research Institute, Clalit Health Care 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Arcensus 0 0 1 0 0 0 1

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