ClinVar Miner

Variants in gene CHRNA4

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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 protective not provided total
3 7 480 466 122 2 47 932

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 2 1 304 375 47 0 0 729
not provided 2 3 173 115 89 0 1 360
Inborn genetic diseases 1 0 75 73 11 0 0 160
not specified 0 0 15 57 38 0 0 99
Autosomal dominant nocturnal frontal lobe epilepsy 1 3 3 39 0 9 0 4 55
Tobacco use disorder 0 0 0 0 0 0 43 43
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 0 14 3 1 0 0 18
CHRNA4-related disorder 0 0 4 14 0 0 0 18
Amyotrophic lateral sclerosis 0 0 1 2 0 0 0 3
NICOTINE ADDICTION, PROTECTION AGAINST 0 0 0 0 0 2 0 2
Developmental and epileptic encephalopathy 94 0 0 1 0 0 0 0 1
Familial sleep-related hypermotor epilepsy 0 0 1 0 0 0 0 1
Frontotemporal dementia 0 1 0 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 304 376 47 0 0 730
GeneDx 2 3 127 124 103 0 0 359
Ambry Genetics 1 0 75 73 11 0 0 160
CeGaT Center for Human Genetics Tuebingen 0 0 19 36 5 0 0 60
Psychiatry Genetics Yale University 0 0 0 0 0 0 43 43
Eurofins Ntd Llc (ga) 0 0 24 1 17 0 0 42
Breakthrough Genomics, Breakthrough Genomics 0 0 1 10 20 0 0 31
PreventionGenetics, part of Exact Sciences 0 0 4 15 9 0 0 28
Athena Diagnostics 0 0 7 0 18 0 0 25
Revvity Omics, Revvity 1 0 15 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 9 6 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 9 3 1 0 0 13
Genetic Services Laboratory, University of Chicago 0 0 1 10 0 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 10 0 0 10
Genome-Nilou Lab 0 0 0 0 9 0 0 9
Baylor Genetics 0 0 8 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 0 7
OMIM 3 0 0 0 0 2 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 1 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 1 3 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1

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