ClinVar Miner

Variants in gene KCNQ3

Minimum submission review status: Collection method:
Minimum conflict level:
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 total
20 13 314 211 151 603

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Benign familial neonatal seizures 6 2 155 79 37 273
Benign familial neonatal seizures 2 10 3 130 12 105 255
not provided 3 8 65 47 33 153
not specified 0 0 18 69 23 104
Benign Neonatal Epilepsy 0 0 41 32 21 94
Seizures 0 0 5 13 12 30
Rolandic epilepsy 4 0 0 0 0 4
Inborn genetic diseases 0 1 1 0 0 2
Malignant tumor of prostate 0 0 1 0 0 1
Seizures, benign familial infantile, 5 1 0 0 0 0 1
Seizures; Intellectual disability 1 0 0 0 0 1
Severe neurodevelopmental delay 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 147 72 108 267
Invitae 6 2 111 70 16 205
GeneDx 3 8 54 79 50 194
Ambry Genetics 0 1 5 13 12 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 18 0 2 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 12 1 0 13
Athena Diagnostics Inc 0 0 5 3 3 11
Genetic Services Laboratory, University of Chicago 0 0 2 8 0 10
GeneReviews 8 0 0 0 1 9
Fulgent Genetics,Fulgent Genetics 1 0 6 0 0 7
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 4 0 0 0 0 4
OMIM 3 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 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 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1

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