ClinVar Miner

Variants in gene KCNQ3

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
15 12 185 158 68 397

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Benign familial neonatal seizures 0 1 116 91 54 253
Benign Neonatal Epilepsy 0 0 63 66 42 171
not specified 0 0 18 69 23 104
not provided 3 8 62 1 4 78
Seizures 0 0 6 14 10 30
Benign familial neonatal seizures 2 9 2 8 2 2 20
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

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 63 66 43 172
GeneDx 3 8 54 62 22 149
Invitae 0 1 54 27 15 97
Ambry Genetics 0 1 6 14 10 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 18 0 2 20
Genetic Services Laboratory, University of Chicago 0 0 2 8 0 10
Athena Diagnostics Inc 0 0 5 2 2 9
GeneReviews 8 0 0 0 1 9
Fulgent Genetics 1 0 6 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 0 6
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 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 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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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