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
28 26 11 0 0 62

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CSNK2B 28 24 11 60
ABHD16A, CSNK2B, GPANK1, LY6G5B, LY6G5C 0 1 0 1
CSNK2B, LY6G5B 0 1 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance total
Institute of Human Genetics, University of Leipzig Medical Center 3 3 4 10
OMIM 6 0 1 7
Mendelics 2 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 3
3billion 2 1 0 3
Baylor Genetics 1 0 1 2
MGZ Medical Genetics Center 0 2 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 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
Solve-RD Consortium 0 2 0 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
Illumina Laboratory Services, Illumina 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
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 1
New York Genome Center 1 0 0 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 1

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