ClinVar Miner

Variants in gene KCNQ3

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Gene type:
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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 not provided total
25 20 396 237 151 1 718

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Benign familial neonatal seizures 12 5 239 118 37 0 406
Benign familial neonatal seizures 2 11 5 136 12 105 0 263
not provided 3 10 66 48 33 0 157
not specified 0 0 18 69 23 0 104
Benign Neonatal Epilepsy 0 0 41 32 21 0 94
Seizures 0 0 6 13 12 0 31
Intellectual disability 2 0 1 3 0 0 6
Rolandic epilepsy 4 0 0 0 0 0 4
Inborn genetic diseases 1 0 2 0 0 0 3
Autistic behavior 1 0 0 0 0 0 1
Intellectual disability; Benign familial neonatal seizures; Lennox-Gastaut syndrome 0 0 0 0 0 1 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Seizures, benign familial infantile, 5 1 0 0 0 0 0 1
Seizures; Intellectual disability 1 0 0 0 0 0 1
Severe neurodevelopmental delay 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 5 197 102 16 0 332
Illumina Clinical Services Laboratory,Illumina 0 0 147 72 108 0 267
GeneDx 3 8 54 79 50 0 194
Ambry Genetics 1 0 6 13 12 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 18 0 2 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 12 2 0 0 16
Athena Diagnostics Inc 0 0 5 3 4 0 12
Genetic Services Laboratory, University of Chicago 0 0 2 8 0 0 10
GeneReviews 8 0 0 0 1 0 9
Fulgent Genetics,Fulgent Genetics 1 0 6 0 0 0 7
Baylor Genetics 1 0 4 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 2 0 1 1 0 0 4
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
New York Genome Center 1 1 1 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 2 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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