ClinVar Miner

Variants in gene PCDH19

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 total
135 63 199 125 36 508

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy 9 74 23 124 40 16 273
not provided 61 39 68 44 8 214
not specified 0 0 17 68 30 99
History of neurodevelopmental disorder 7 2 9 7 11 36
See cases 4 0 0 0 0 4
Inborn genetic diseases 2 0 1 0 0 3
Complex febrile seizures 1 0 0 0 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
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: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 10 107 68 16 240
GeneDx 50 33 36 66 27 212
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 1 22 3 16 47
Ambry Genetics 9 2 10 7 11 39
Genetic Services Laboratory, University of Chicago 2 1 19 8 7 36
CeGaT Praxis fuer Humangenetik Tuebingen 8 4 13 4 0 29
Athena Diagnostics Inc 7 0 5 3 5 20
Mendelics 8 5 1 1 0 15
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 0 1 0 0 10
OMIM 8 0 0 0 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 1 0 0 0 7
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
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
Baylor Genetics 1 0 1 0 0 2
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
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 for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 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

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.