ClinVar Miner

Variants studied for Generalized epilepsy-paroxysmal dyskinesia syndrome

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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
14 13 529 557 39 1113

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNMA1 14 12 528 557 39 1111
DLG5, KCNMA1 0 0 1 0 0 1
KCNA1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 7 439 534 36 1027
Illumina Laboratory Services, Illumina 0 0 85 25 8 118
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
OMIM 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 2
Pediatric Genetics Clinic, Sheba Medical Center 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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