ClinVar Miner

Variants in gene CNTNAP2

Minimum submission review status: Collection method:
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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 risk factor not provided total
52 29 713 305 160 3 3 1118

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Pitt-Hopkins-like syndrome 1 31 9 518 162 66 0 2 756
not provided 16 9 242 61 62 0 0 386
not specified 0 0 38 102 74 0 0 182
Pitt-Hopkins-like syndrome 0 0 102 20 26 0 0 148
History of neurodevelopmental disorder 1 0 39 39 8 0 0 87
See cases 2 7 31 4 0 0 0 44
Autism 15; Pitt-Hopkins-like syndrome 1 0 0 25 0 0 0 0 25
Intellectual disability 0 1 3 2 0 0 0 6
Rolandic epilepsy 6 0 0 0 0 0 0 6
Autism 15 0 0 0 0 0 3 0 3
Autism spectrum disorder 0 1 1 0 0 0 0 2
Autistic disorder of childhood onset 0 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 0 0 1
Hyperactivity; Seizures; Focal seizures; Gait imbalance 0 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
Schizoaffective disorder, depressive type 0 1 0 0 0 0 0 1
Small for gestational age 0 0 0 0 0 0 1 1
VATER association 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 22 5 361 162 27 0 0 577
GeneDx 11 8 176 102 102 0 0 399
Illumina Clinical Services Laboratory,Illumina 0 0 185 32 49 0 0 248
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 76 8 20 0 0 105
Ambry Genetics 2 0 39 39 8 0 0 88
Genetic Services Laboratory, University of Chicago 0 0 34 23 10 0 0 66
Athena Diagnostics Inc 0 0 11 5 14 0 0 30
PreventionGenetics, PreventionGenetics 0 0 0 4 18 0 0 22
Fulgent Genetics,Fulgent Genetics 0 0 21 0 0 0 0 21
ISCA site 1 1 4 15 0 0 0 0 20
Baylor Genetics 1 0 17 0 0 0 0 18
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 14 0 0 15
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 11 1 0 0 0 12
OMIM 7 0 0 0 0 3 0 10
Lineagen, Inc 4 0 2 0 0 0 0 6
ISCA site 4 0 0 5 1 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 1 0 0 0 6
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 6 0 0 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 2 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 1 0 0 0 4
Mendelics 1 0 0 0 2 0 0 3
ISCA site 6 0 1 1 1 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 1 2 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
ISCA site 14 0 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 1 0 0 0 0 1
Liping Wei Laboratory,Peking University 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1

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