ClinVar Miner

Variants in gene DEPDC5

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
330 161 1284 956 165 128 2795

Condition and significance breakdown #

Total conditions: 49
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial focal epilepsy with variable foci 244 67 978 782 61 0 2132
not provided 51 36 384 177 131 0 744
Inborn genetic diseases 18 4 190 91 21 0 324
Epilepsy, familial focal, with variable foci 1 67 50 101 12 3 67 269
not specified 0 0 31 22 33 0 85
DEPDC5-related disorder 2 3 29 34 3 2 73
Seizure 8 5 0 1 0 0 14
Familial cancer of breast 0 0 0 0 0 11 11
Ovarian serous cystadenocarcinoma 0 0 0 0 0 11 11
Self-limited epilepsy with centrotemporal spikes 11 0 0 0 0 0 11
Malignant tumor of esophagus 0 0 0 0 0 9 9
Intellectual disability 0 1 4 2 1 0 8
Acute myeloid leukemia 0 0 0 0 0 7 7
Sarcoma 0 0 0 0 0 7 7
See cases 4 1 2 0 0 0 7
Focal epilepsy 0 1 4 0 1 0 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Epilepsy 4 0 1 0 0 0 5
Epilepsy, familial focal, with variable foci 1; Developmental and epileptic encephalopathy 111 1 0 4 0 0 0 5
Developmental and epileptic encephalopathy 111 2 1 0 1 0 0 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Abnormal cerebral morphology 0 0 2 0 0 0 2
Autosomal dominant epilepsy 1 1 0 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Epileptic encephalopathy 0 0 2 0 0 0 2
Familial sleep-related hypermotor epilepsy 1 1 0 0 0 0 2
Gastric cancer 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
SUDDEN INFANT DEATH SYNDROME 0 2 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 83 0 0 1 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Ependymoma 0 0 1 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Familial sleep-related hypermotor epilepsy; Familial focal epilepsy with variable foci 0 0 0 0 0 1 1
Focal epilepsy; Cortical dysplasia 0 1 0 0 0 0 1
Genetic developmental and epileptic encephalopathy 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hereditary ataxia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 244 67 980 785 61 0 2137
GeneDx 36 19 284 112 127 0 578
Ambry Genetics 18 4 190 91 21 0 324
CeGaT Center for Human Genetics Tuebingen 18 7 65 61 8 0 159
Breakthrough Genomics, Breakthrough Genomics 0 0 2 29 53 0 84
PreventionGenetics, part of Exact Sciences 1 3 29 34 16 0 83
GeneReviews 0 0 0 0 0 65 65
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 63 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 23 17 0 0 46
Athena Diagnostics 2 0 15 1 19 0 37
Mayo Clinic Laboratories, Mayo Clinic 1 2 12 1 19 0 35
Revvity Omics, Revvity 2 7 20 0 0 0 29
Fulgent Genetics, Fulgent Genetics 2 0 21 3 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 14 5 6 1 0 0 25
Génétique des Maladies du Développement, Hospices Civils de Lyon 18 4 1 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 3 2 13 0 0 0 18
OMIM 17 0 0 0 0 0 17
Baylor Genetics 0 2 13 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 7 1 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 8 3 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 5 0 0 0 13
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 11 0 0 0 0 0 11
New York Genome Center 0 2 9 0 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 3 1 1 6 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 1 5 2 0 10
3billion 5 2 1 1 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 3 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 2 1 4 0 0 0 7
Mendelics 0 3 2 2 0 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 3 0 1 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 5 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 1 0 5
Dubai Health Genomic Medicine Center, Dubai Health 2 0 2 1 0 0 5
Genetic Services Laboratory, University of Chicago 1 0 4 0 0 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 4 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 2 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 1 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
Dasa 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 2 0 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Rare Disease Center, Seoul National University Hospital 1 1 0 0 0 0 2
Robert's Program, Boston Children's Hospital 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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 1
Solve-RD Consortium 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.