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
78 45 129 57 26 282

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 30 7 58 19 18 131
not provided 36 32 42 4 3 107
Myotonia congenita 30 0 16 27 5 78
not specified 0 0 19 32 21 69
Congenital myotonia, autosomal recessive form 21 3 4 0 0 28
Congenital myotonia, autosomal dominant form 10 1 4 0 0 15
Myotonia 2 1 1 0 0 4
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
Inborn genetic diseases 0 0 1 0 0 1
Migraine; Memory impairment; Muscle cramps; EMG: neuropathic changes; EMG: myotonic runs; Limb pain 0 1 0 0 0 1
Muscular Diseases; EMG: myopathic abnormalities 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
Myotonia levior 1 0 0 0 0 1
Myotonia; EMG: myotonic discharges 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 32 8 58 19 17 134
GeneDx 15 11 22 30 19 97
Athena Diagnostics Inc 31 16 33 5 7 92
Illumina Clinical Services Laboratory,Illumina 5 0 16 27 5 53
GeneReviews 27 0 0 0 0 27
OMIM 20 0 1 0 0 21
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 5 0 2 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 3 1 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 5 0 0 0 8
Fulgent Genetics 5 0 2 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 2 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 2
Ambry Genetics 0 0 1 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
Mendelics 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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.