ClinVar Miner

Variants in gene PCDH19

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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 total
187 84 303 149 37 692

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy 9 128 34 234 81 17 486
not provided 63 41 70 45 7 219
not specified 0 0 17 68 30 99
History of neurodevelopmental disorder 7 2 9 7 11 36
Non-ketotic hyperglycinemia; Early infantile epileptic encephalopathy 9 0 10 1 0 0 11
Inborn genetic diseases 3 0 1 0 0 4
See cases 4 0 0 0 0 4
Intellectual disability 0 2 0 0 0 2
Neurodevelopmental disorder with epilepsy 0 0 0 1 1 2
Seizures 2 0 0 0 0 2
sporadic NAFE 0 0 0 2 0 2
Complex febrile seizures 1 0 0 0 0 1
Familial GGE 0 0 0 1 0 1
Generalized tonic-clonic seizures 0 1 0 0 0 1
Global developmental delay; Long palpebral fissure; Delayed speech and language development; Strabismus; Prominent fingertip pads; Generalized tonic-clonic seizures; Absence seizures; Generalized seizures; Hand tremor; Frontal cortical atrophy; Temporal cortical atrophy 1 0 0 0 0 1
Intractable status epilepticus 0 0 1 0 0 1
Non-lesional parietal lobe epilepsy 0 1 0 0 0 1
Periventricular nodular heterotopia and epilepsy 0 0 1 0 0 1
Refractory epilepsy with Lennox Gastaut syndrome 0 1 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 1
Sleep disturbance; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia 0 0 1 0 0 1
developmental delay with seizures 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 total
Invitae 90 17 210 96 16 429
GeneDx 50 33 36 66 27 212
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 1 22 3 16 47
Ambry Genetics 10 2 10 7 11 40
Genetic Services Laboratory, University of Chicago 2 1 19 8 7 36
CeGaT Praxis fuer Humangenetik Tuebingen 9 4 14 5 0 32
Athena Diagnostics Inc 7 1 5 3 5 21
Neurogenetics Research Program, University of Adelaide 0 12 2 3 1 18
Mendelics 8 5 1 1 0 15
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 2 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 0 1 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 1 7 0 0 9
OMIM 8 0 0 0 0 8
Baylor Genetics 1 1 3 0 0 5
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 1 2 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 4 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 3 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 2 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
ISCA site 1 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Blueprint Genetics 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 1

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