ClinVar Miner

Variants studied for Neurodevelopmental disorder with language impairment and behavioral abnormalities

Coded as:
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
14 24 19 1 0 1 53

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
GRIA2 14 24 19 1 1 53

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
SIB Swiss Institute of Bioinformatics 1 13 1 0 0 15
OMIM 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 1

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