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
83 17 177 85 34 2 373

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epilepsy, familial focal, with variable foci 1 71 8 120 68 30 0 293
not provided 4 9 46 3 10 0 71
Seizures 4 0 19 24 18 0 65
not specified 0 0 9 2 15 0 26
Rolandic epilepsy 11 0 0 0 0 0 11
DEPDC5-Related Disorder 0 0 0 0 0 2 2
Inborn genetic diseases 0 0 2 0 0 0 2
Ependymoma 0 0 1 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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 6 103 68 30 0 232
GeneReviews 50 0 19 0 0 0 69
Ambry Genetics 4 0 21 24 18 0 67
GeneDx 4 7 32 2 0 0 45
Athena Diagnostics Inc 1 0 6 1 12 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 12 0 0 0 14
PreventionGenetics 0 0 0 0 13 0 13
OMIM 12 0 0 0 0 0 12
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 11 0 0 0 0 0 11
Fulgent Genetics 1 0 6 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 4 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 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
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

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