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 1 175 112 51 311

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 79 53 19 139
Nocturnal frontal lobe epilepsy 0 0 33 27 24 84
Autosomal dominant nocturnal frontal lobe epilepsy 0 0 62 5 2 69
not specified 0 0 10 47 18 67
Seizures 0 0 11 12 6 29
Epilepsy, nocturnal frontal lobe, type 4 2 1 8 1 0 11
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 61 45 26 132
Invitae 0 0 62 51 10 123
Illumina Clinical Services Laboratory,Illumina 0 0 34 27 24 85
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 22 2 6 30
Ambry Genetics 0 0 11 12 6 29
Athena Diagnostics Inc 0 0 2 2 3 7
Genetic Services Laboratory, University of Chicago 0 0 1 6 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 0 6
OMIM 3 0 0 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
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
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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