ClinVar Miner

Variants in gene CLCN1

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 total
128 60 287 120 54 564

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 90 11 199 66 19 384
not provided 47 41 66 37 22 196
Myotonia congenita 30 0 29 22 29 110
not specified 0 0 16 32 22 66
Congenital myotonia, autosomal recessive form 27 5 9 0 1 39
Congenital myotonia, autosomal dominant form 14 5 8 0 0 25
Myotonia 2 1 1 0 0 4
Inborn genetic diseases 1 0 1 0 0 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 0 1
Hypoplasia of the maxilla; Achilles tendon contracture; Myotonia; Lumbar hyperlordosis; Skeletal muscle hypertrophy 0 1 0 0 0 1
Migraine; Memory impairment; Muscle cramps; EMG: neuropathic changes; EMG: myotonic runs; Limb pain 0 1 0 0 0 1
Myocardial infarction; Headache; Rigidity; Vertigo; Myotonia of the upper limb; EMG: myotonic discharges 1 0 0 0 0 1
Myopathy; EMG: myopathic abnormalities 0 1 0 0 0 1
Myotonia levior 1 0 0 0 0 1
Myotonia; EMG: myotonic discharges 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 90 10 199 77 18 394
GeneDx 15 14 22 39 37 127
Athena Diagnostics Inc 33 19 53 7 10 122
Illumina Clinical Services Laboratory,Illumina 5 0 29 22 29 85
CeGaT Praxis fuer Humangenetik Tuebingen 16 7 6 4 0 33
GeneReviews 27 0 0 0 0 27
OMIM 20 0 1 0 0 21
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 6 4 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 5 0 2 9
Baylor Genetics 4 1 2 0 0 7
Fulgent Genetics,Fulgent Genetics 5 0 2 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 6
Mendelics 1 1 2 0 1 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Ambry Genetics 1 0 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis,University of Liege 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.