ClinVar Miner

Variants studied for autosomal dominant nocturnal frontal lobe epilepsy 1

Included ClinVar conditions (2):
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
6 1 11 0 5 22

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CHRNA4 6 1 11 4 21
CHRNA4, LOC100130587 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 5
Athena Diagnostics Inc 0 0 0 4 4
Fulgent Genetics 0 0 4 0 4
OMIM 3 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 1

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