ClinVar Miner

Variants studied for Epilepsy, familial focal, with variable foci 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 pathogenic, low penetrance not provided total
59 41 94 12 3 1 66 247

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
DEPDC5 54 39 92 12 3 0 66 237
CLCNKB, LOC106501713 1 0 0 0 0 0 0 1
DEPDC5, LINC02558, LOC125446219, LOC126863124, LOC129391278, LOC130067263, LOC130067264, LOC130067265, LOC130067266, NOA3, YWHAH 0 0 0 0 0 1 0 1
DEPDC5, LOC125446219, LOC126863124, LOC130067262 1 0 0 0 0 0 0 1
DEPDC5, LOC130067262 1 0 0 0 0 0 0 1
DEPDC5, PRR14L 0 1 0 0 0 0 0 1
DEPDC5, RFPL2 0 1 0 0 0 0 0 1
HBA-LCR, NPRL3 1 0 0 0 0 0 0 1
MPG, NPRL3 1 0 0 0 0 0 0 1
NPRL3 0 0 1 0 0 0 0 1
SCN3A 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
GeneReviews 0 0 0 0 0 0 65 65
Institute of Human Genetics, University of Leipzig Medical Center 10 5 7 1 0 0 0 23
Fulgent Genetics, Fulgent Genetics 1 0 17 3 0 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 3 2 14 0 0 0 0 19
OMIM 15 0 0 0 0 0 0 15
Baylor Genetics 0 2 13 0 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 4 0 0 0 0 12
New York Genome Center 0 2 9 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 1 3 1 0 0 0 10
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 1 1 0 0 0 0 10
Labcorp Genetics (formerly Invitae), Labcorp 6 0 2 0 0 0 0 8
Mendelics 0 3 2 2 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 3 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 2 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
3billion, Medical Genetics 2 0 1 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 2 0 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 0 0 1 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 1

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