ClinVar Miner

Variants studied for autosomal dominant nocturnal frontal lobe epilepsy

Included ClinVar conditions (8):
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 not provided total
34 2 377 167 96 1 669

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNT1 12 0 159 99 47 0 317
CHRNA4 6 1 104 30 25 1 163
CHRNA2 3 0 67 24 9 0 101
CHRNB2 7 1 40 12 12 0 70
CHRNA4, LOC100130587 0 0 5 2 3 0 10
CRH 3 0 0 0 0 0 3
SPAG1 3 0 0 0 0 0 3
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 0 0 1 0 0 0 1
CHRNA4, KCNQ2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 0 362 165 91 0 629
GeneReviews 20 0 0 0 0 0 20
OMIM 15 0 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 0 0 12 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 4 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 1

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