ClinVar Miner

Variants in gene CLCN1

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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
235 227 615 582 78 1 22 1515

Condition and significance breakdown #

Total conditions: 25
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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 205 119 414 525 30 0 8 1248
not provided 81 74 214 64 57 0 0 440
Congenital myotonia, autosomal recessive form 69 59 34 0 10 1 1 152
Batten-Turner congenital myopathy 5 3 25 22 28 0 14 96
not specified 0 0 49 24 23 0 0 96
Congenital myotonia, autosomal dominant form 30 21 26 0 10 0 1 81
Inborn genetic diseases 1 0 59 2 0 0 0 62
CLCN1-related disorder 13 4 8 10 4 0 0 39
Tip-toe gait 2 9 1 0 0 0 0 12
Abnormality of the musculature 1 3 0 0 0 0 0 4
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
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form; Myotonia levior 0 0 0 0 0 0 1 1
Familial 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
Metachromatic leukodystrophy 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
RASopathy 1 0 0 0 0 0 0 1
Thomsen and Becker disease 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 203 72 405 517 30 0 0 1227
GeneDx 44 28 85 68 57 0 0 282
Athena Diagnostics 46 20 78 9 14 0 0 167
Revvity Omics, Revvity 28 21 100 1 0 0 0 150
Fulgent Genetics, Fulgent Genetics 31 46 7 5 0 0 0 89
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 15 38 4 0 0 0 85
Illumina Laboratory Services, Illumina 6 0 25 22 28 0 0 81
Ambry Genetics 1 0 59 2 0 0 0 62
CeGaT Center for Human Genetics Tuebingen 24 10 9 11 3 0 0 57
Breakthrough Genomics, Breakthrough Genomics 0 0 0 11 40 0 0 51
PreventionGenetics, part of Exact Sciences 12 4 8 10 4 0 0 38
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 6 5 0 0 1 0 24
Kariminejad - Najmabadi Pathology & Genetics Center 6 10 7 0 0 0 0 23
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 13 0 8 1 0 0 23
OMIM 21 0 1 0 0 0 0 22
MGZ Medical Genetics Center 12 4 6 0 0 0 0 22
Mayo Clinic Laboratories, Mayo Clinic 15 1 4 0 0 0 0 20
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 7 5 7 0 0 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 5 6 6 0 0 0 0 17
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 7 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 5 3 2 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 7 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 0 10
3billion 4 3 3 0 0 0 0 10
Eurofins Ntd Llc (ga) 2 0 5 0 2 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 4 1 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 2 2 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 8 8
Molecular Genetics, Royal Melbourne Hospital 6 0 2 0 0 0 0 8
Baylor Genetics 4 1 3 0 0 0 0 7
Mendelics 2 1 3 0 1 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 4 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 3 2 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 4 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 1 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 0 4
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 0 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
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
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
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
Institute of Human Genetics, Heidelberg University 0 1 0 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
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Arcensus 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1

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