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
90 54 171 96 46 393

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 38 38 58 59 32 209
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 44 10 92 5 5 155
Myotonia congenita 30 0 16 27 5 78
not specified 0 0 16 32 21 66
Congenital myotonia, autosomal recessive form 23 3 5 0 1 31
Congenital myotonia, autosomal dominant form 10 2 5 0 0 16
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 47 10 92 53 18 220
GeneDx 15 14 22 39 37 127
Athena Diagnostics Inc 33 18 45 7 8 111
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 6 3 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 5 0 2 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 5 0 0 0 8
Fulgent Genetics,Fulgent Genetics 5 0 2 0 0 7
Mendelics 1 1 2 0 1 5
Baylor Genetics 2 1 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
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
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
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
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: University of Minnesota 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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