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
87 50 139 89 32 356

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 52 38 62 4 5 160
Early infantile epileptic encephalopathy 9 29 9 59 31 16 141
not specified 0 0 18 68 30 100
History of neurodevelopmental disorder 6 3 9 8 10 36
See cases 4 0 0 0 0 4
Inborn genetic diseases 2 0 1 0 0 3
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 45 32 36 59 24 196
Invitae 15 3 44 29 15 106
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 1 22 3 16 47
Ambry Genetics 8 3 10 8 10 39
Genetic Services Laboratory, University of Chicago 2 1 19 8 7 36
Athena Diagnostics Inc 7 0 5 1 5 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 8 1 0 13
OMIM 8 0 0 0 0 8
Center for Human Genetics, Inc 1 1 1 2 0 5
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 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 1 0 1 0 0 2
ISCA site 1 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 1

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