ClinVar Miner

Variants in gene CSNK2A1

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
42 46 70 53 31 1 216

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 30 18 43 41 31 0 153
Okur-Chung neurodevelopmental syndrome 21 30 16 1 1 0 62
Inborn genetic diseases 3 3 8 7 0 0 21
not specified 0 0 5 5 0 0 10
CSNK2A1-related disorder 0 1 5 1 1 1 9
Autism spectrum disorder 0 1 0 0 0 0 1
CSNK2A1-related neurodevelopmental syndrome 0 1 0 0 0 0 1
Developmental disorder 1 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 29 9 32 25 27 0 122
CeGaT Center for Human Genetics Tuebingen 0 6 5 17 3 0 31
Ambry Genetics 3 3 8 7 0 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 10 0 14
GenomeConnect - Simons Searchlight 6 3 0 0 0 0 9
PreventionGenetics, part of Exact Sciences 0 1 5 1 1 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 3 0 0 8
OMIM 7 0 0 0 0 0 7
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1 1 4 0 7
Revvity Omics, Revvity 0 0 6 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 0 3 0 0 0 6
3billion 2 3 1 0 0 0 6
Baylor Genetics 2 1 2 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 2 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 2 0 0 0 0 4
Mendelics 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1
Human Genetics, University of Luebeck 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.