ClinVar Miner

Variants in gene CHRNA2

Minimum submission review status: Collection method:
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Gene type:
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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
3 2 275 124 72 428

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal dominant nocturnal frontal lobe epilepsy 0 0 155 70 9 234
not provided 0 0 80 27 13 116
Epilepsy, nocturnal frontal lobe, type 4 2 1 56 3 53 111
not specified 0 0 10 47 18 67
Seizures 0 1 10 14 6 31
Nocturnal frontal lobe epilepsy 0 0 10 3 2 15
Intellectual disability 0 0 1 0 0 1
Seizures, benign familial infantile, 6 1 0 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 1
myoclonic epilepsy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 155 78 10 243
GeneDx 0 0 61 45 26 132
Illumina Clinical Services Laboratory,Illumina 0 0 55 4 55 114
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 22 2 6 30
Ambry Genetics 0 0 9 14 6 29
Athena Diagnostics Inc 0 0 3 2 3 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 1 0 8
Genetic Services Laboratory, University of Chicago 0 0 1 6 0 7
OMIM 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
New York Genome Center 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1

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