ClinVar Miner

Variants in gene CSNK2B

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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 not provided total
67 46 50 10 7 2 156

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 36 17 25 4 7 0 84
Poirier-Bienvenu neurodevelopmental syndrome 34 25 17 0 0 0 70
Inborn genetic diseases 9 2 7 0 0 0 18
CSNK2B-related disorder 1 3 1 6 0 1 12
Neurodevelopmental disorder 2 0 0 0 0 0 2
not specified 0 0 2 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
Autosomal dominant non-syndromic intellectual disability; Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 0 1
CSNK2B-related intellectual disability with or without epilepsy 1 0 0 0 0 0 1
Intellectual disability and seizures 1 0 0 0 0 0 1
Intellectual disability-craniodigital syndrome 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Seizure; Intellectual disability; Developmental delay 0 0 0 0 0 1 1
Seizure; Syndactyly; Tapered finger; Deeply set eye; Pointed chin; Mandibular prognathia; Abnormal facial shape; Thin upper lip vermilion; Underdeveloped nasal alae; Intellectual disability; Toe clinodactyly; Asymmetry of the ears 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 31 7 17 0 6 0 61
Ambry Genetics 9 2 7 0 0 0 18
CeGaT Center for Human Genetics Tuebingen 5 4 6 3 0 0 18
PreventionGenetics, part of Exact Sciences 1 3 1 6 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 4 3 4 0 0 0 11
OMIM 6 0 1 0 0 0 7
Mendelics 2 3 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 5
3billion 3 1 1 0 0 0 5
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 4
Pediatrics, Henan Provincial People's Hospital 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 2 0 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 1 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 1

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