ClinVar Miner

Variants in gene CLCN1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
215 170 531 547 79 1 22 1359

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 190 69 356 489 30 0 8 1126
not provided 71 68 187 62 42 0 0 381
Congenital myotonia, autosomal recessive form 49 29 28 0 10 1 1 107
Batten-Turner congenital myopathy 5 3 27 22 29 0 14 99
not specified 0 0 29 21 23 0 0 72
Congenital myotonia, autosomal dominant form 25 17 18 0 10 0 1 66
Inborn genetic diseases 1 0 28 0 0 0 0 29
CLCN1-related condition 6 1 3 10 4 0 0 24
Tip-toe gait 2 9 1 0 0 0 0 12
Abnormality of the musculature 1 3 0 0 0 0 0 4
CLCN1-related disorder 2 0 0 0 0 0 0 2
Myotonia 1 1 0 0 0 0 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 0 0 0 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 0 0 0 1
Cerebral palsy 1 0 0 0 0 0 0 1
Hyperkalemic periodic paralysis 0 0 1 0 0 0 0 1
Hypoplasia of the maxilla; Achilles tendon contracture; Myotonia; Lumbar hyperlordosis; Skeletal muscle hypertrophy 0 1 0 0 0 0 0 1
Migraine; Memory impairment; Muscle spasm; EMG: neuropathic changes; EMG: myotonic runs; Limb pain 0 1 0 0 0 0 0 1
Myocardial infarction; Headache; Rigidity; Vertigo; Myotonia of the upper limb; EMG: myotonic discharges 1 0 0 0 0 0 0 1
Myopathy; EMG: myopathic abnormalities 0 1 0 0 0 0 0 1
Myotonia levior 1 0 0 0 0 0 0 1
Myotonia; EMG: myotonic discharges 0 1 0 0 0 0 0 1
Thomsen and Becker disease 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 190 67 354 488 30 0 0 1129
GeneDx 31 23 57 68 57 0 0 236
Athena Diagnostics Inc 41 21 72 8 13 0 0 155
Revvity Omics, Revvity 28 21 100 1 0 0 0 150
Illumina Laboratory Services, Illumina 6 0 27 22 29 0 0 84
CeGaT Center for Human Genetics Tuebingen 22 9 11 10 2 0 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 3 16 1 0 0 0 32
Ambry Genetics 1 0 28 0 0 0 0 29
PreventionGenetics, part of Exact Sciences 6 1 3 10 4 0 0 24
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 6 5 0 0 1 0 24
OMIM 21 0 1 0 0 0 0 22
MGZ Medical Genetics Center 12 4 6 0 0 0 0 22
Fulgent Genetics, Fulgent Genetics 9 1 4 5 0 0 0 19
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 7 5 7 0 0 0 0 19
GeneReviews 0 0 0 0 0 0 14 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 6 4 0 0 0 0 13
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 2 9 1 0 0 0 0 12
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 3 5 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 6 0 4 0 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 7 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 0 10
Eurofins Ntd Llc (ga) 2 0 5 0 2 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 8 8
Mendelics 2 1 3 0 1 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 3 1 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 1 0 0 0 0 6
Baylor Genetics 2 1 3 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 4 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 4 1 0 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 1 3 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 0 0 0 3
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 3 0 0 0 0 0 3
3billion 2 0 1 0 0 0 0 3
DASA 1 2 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 2 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 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 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis, University of Liege 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 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 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Arcensus 0 0 1 0 0 0 0 1

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