ClinVar Miner

Variants studied for Poirier-Bienvenu neurodevelopmental syndrome

Included ClinVar conditions (2):
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
26 18 11 0 0 52

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CSNK2B 26 17 11 51
CSNK2B, LY6G5B 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance total
Institute of Human Genetics, University of Leipzig Medical Center 3 2 5 10
OMIM 6 0 1 7
Mendelics 2 3 0 5
3billion 2 1 0 3
Baylor Genetics 1 0 1 2
MGZ Medical Genetics Center 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 2
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Revvity Omics, Revvity 0 1 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 1
New York Genome Center 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 1 0 1

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