ClinVar Miner

Variants in gene DEPDC5

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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
156 53 471 206 41 2 884

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial focal epilepsy with variable foci 83 21 319 148 32 0 603
Epilepsy, familial focal, with variable foci 1 72 14 113 19 0 0 216
not provided 15 16 63 49 15 0 156
Seizures 4 2 17 27 18 0 68
not specified 0 0 11 2 17 0 30
Rolandic epilepsy 11 0 0 0 0 0 11
Intellectual disability 0 1 3 2 0 0 6
Inborn genetic diseases 1 0 2 0 0 0 3
DEPDC5-Related Disorder 0 0 0 0 0 2 2
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 0 0 0 1
Ependymoma 0 0 1 0 0 0 1
Epilepsy 1 0 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 96 27 389 185 36 0 733
GeneReviews 50 0 19 0 0 0 69
Ambry Genetics 5 0 18 27 18 0 68
GeneDx 8 9 32 3 0 0 52
CeGaT Praxis fuer Humangenetik Tuebingen 7 7 24 8 0 0 46
Athena Diagnostics Inc 1 0 10 1 15 0 27
PreventionGenetics, PreventionGenetics 0 0 0 0 13 0 13
OMIM 12 0 0 0 0 0 12
Baylor Genetics 0 0 11 0 0 0 11
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 11 0 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 1 0 6 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 1 1 0 0 0 6
Mendelics 0 1 2 2 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 1 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 3 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1

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