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 0 151 88 40 253

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic uncertain significance likely benign benign total
Nocturnal frontal lobe epilepsy 0 33 27 24 84
not provided 0 74 3 1 76
Autosomal dominant nocturnal frontal lobe epilepsy 0 42 23 9 74
not specified 0 10 47 18 67
Seizures 0 11 12 6 29
Epilepsy, nocturnal frontal lobe, type 4 2 6 1 0 9
Seizures, benign familial infantile, 6 1 0 0 0 1
Seizures; Intellectual disability 0 1 0 0 1
myoclonic epilepsy 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic uncertain significance likely benign benign total
GeneDx 0 61 39 16 116
Illumina Clinical Services Laboratory,Illumina 0 34 27 24 85
Invitae 0 42 23 9 74
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 22 2 6 30
Ambry Genetics 0 11 12 6 29
Genetic Services Laboratory, University of Chicago 0 1 6 0 7
Athena Diagnostics Inc 0 1 2 2 5
OMIM 3 0 0 0 3
Fulgent Genetics 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 0 1
GeneReviews 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 1

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