ClinVar Miner

Variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 1

Coded as:
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
4 2 41 0 10 6 60

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
CHRNA4 3 2 38 9 4 53
CHRNA4, LOC126863087 0 0 2 0 2 4
CHRNA4, LOC100130587 0 0 1 1 0 2
CHRNB2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Revvity Omics, Revvity 1 0 16 0 0 17
Genome-Nilou Lab 0 0 0 9 0 9
Baylor Genetics 0 0 8 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 4
OMIM 3 0 0 0 0 3
Athena Diagnostics 0 0 0 3 0 3
GeneReviews 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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