ClinVar Miner

Variants in gene GABBR2

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Minimum submission review status: Collection method:
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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 protective risk factor not provided total
7 9 397 510 165 1 2 1 1036

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Epileptic encephalopathy 3 1 287 453 65 0 0 0 809
not provided 2 0 85 78 120 0 0 0 276
Inborn genetic diseases 1 0 35 7 0 0 0 0 43
Developmental and epileptic encephalopathy, 59 3 4 11 2 4 0 0 0 24
GABBR2-related disorder 1 1 6 13 2 0 0 0 23
Neurodevelopmental disorder with poor language and loss of hand skills 2 1 7 0 4 0 0 1 15
not specified 0 0 10 0 0 0 0 0 10
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 1 5 1 0 0 0 0 7
Intellectual disability 0 1 3 0 0 0 0 0 4
Tobacco addiction, susceptibility to; Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 0 3 0 0 0 0 0 3
Tobacco addiction, susceptibility to 0 0 0 0 0 0 2 0 2
Autism spectrum disorder 0 0 1 0 0 0 0 0 1
Nicotine dependence, protection against 0 0 0 0 0 1 0 0 1
Rett syndrome 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 287 453 65 0 0 0 809
GeneDx 1 0 55 50 118 0 0 0 224
Breakthrough Genomics, Breakthrough Genomics 0 0 0 12 50 0 0 0 62
Ambry Genetics 1 0 35 7 0 0 0 0 43
CeGaT Center for Human Genetics Tuebingen 1 0 10 29 2 0 0 0 42
PreventionGenetics, part of Exact Sciences 1 1 6 13 2 0 0 0 23
Revvity Omics, Revvity 0 0 17 0 0 0 0 0 17
OMIM 5 0 0 0 0 1 2 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 8 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 0 0 6
MGZ Medical Genetics Center 0 1 4 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 0 0 4
3billion 1 1 1 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 1 2 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 0 0 1
Choi Lab, Seoul National University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 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 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 0 0 1

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