ClinVar Miner

Variants in gene PCDH19

See also:
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
288 116 501 316 48 4 1159

Condition and significance breakdown #

Total conditions: 30
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 9 235 60 400 252 18 4 945
not provided 65 47 114 69 20 0 299
Inborn genetic diseases 13 2 19 37 16 0 87
not specified 1 0 21 45 30 0 84
PCDH19-related condition 0 0 2 20 0 0 22
Non-ketotic hyperglycinemia; Developmental and epileptic encephalopathy, 9 0 10 1 0 0 0 11
Seizure 3 1 0 0 0 0 4
Autism spectrum disorder 0 0 1 1 0 0 2
Bilateral tonic-clonic seizure 0 2 0 0 0 0 2
Intellectual disability 0 2 0 0 0 0 2
Neurodevelopmental disorder with epilepsy 0 0 0 1 1 0 2
See cases 2 0 0 0 0 0 2
sporadic NAFE 0 0 0 2 0 0 2
Abnormal cerebral morphology 0 0 1 0 0 0 1
Childhood epilepsy with centrotemporal spikes 1 0 0 0 0 0 1
Complex febrile seizure 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 0 0 1
Epileptic encephalopathy 0 1 0 0 0 0 1
Familial GGE 0 0 0 1 0 0 1
Focal-onset seizure 1 0 0 0 0 0 1
Global developmental delay; Long palpebral fissure; Delayed speech and language development; Strabismus; Prominent fingertip pads; Bilateral tonic-clonic seizure; Generalized non-motor (absence) seizure; Generalized-onset seizure; Hand tremor; Frontal cortical atrophy; Temporal cortical atrophy 1 0 0 0 0 0 1
History of neurodevelopmental disorder 0 0 1 0 0 0 1
Intractable status epilepticus 0 0 1 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Non-lesional parietal lobe epilepsy 0 1 0 0 0 0 1
PCDH19-related epilepsy 0 1 0 0 0 0 1
PCDH19-related epilespy 0 1 0 0 0 0 1
Periventricular nodular heterotopia and epilepsy 0 0 1 0 0 0 1
Refractory epilepsy with Lennox Gastaut syndrome 0 1 0 0 0 0 1
developmental delay with seizures 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 192 22 374 255 18 0 861
GeneDx 50 37 78 68 40 0 273
Ambry Genetics 13 2 20 37 16 0 88
CeGaT Center for Human Genetics Tuebingen 11 6 16 21 0 0 54
Eurofins Ntd Llc (ga) 5 1 18 3 15 0 42
Genetic Services Laboratory, University of Chicago 1 1 19 12 7 0 40
PreventionGenetics, part of Exact Sciences 0 0 2 21 4 0 27
Athena Diagnostics Inc 8 1 6 3 4 0 22
Mendelics 13 6 1 1 0 0 21
Neurogenetics Research Program, University of Adelaide 0 12 2 3 1 0 18
Revvity Omics, Revvity 1 3 10 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 10 2 0 0 0 0 12
Pediatric Department, Peking University First Hospital 4 6 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 5 3 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 5 2 0 9
Fulgent Genetics, Fulgent Genetics 2 0 1 4 2 0 9
OMIM 8 0 0 0 0 0 8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 7 0 1 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 0 0 7
Baylor Genetics 2 1 3 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 1 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 3 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 2 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 3
3billion 1 2 0 0 0 0 3
MGZ Medical Genetics Center 0 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 1 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.