ClinVar Miner

Variants studied for Snijders Blok-Campeau syndrome

Included ClinVar conditions (1):
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
25 54 72 1 2 146

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHD3 25 52 66 1 2 138
CHD3, LOC126862484 0 1 3 0 0 4
CHD3, NAA38 0 0 3 0 0 3
CHD3, SCARNA21 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
SIB Swiss Institute of Bioinformatics 8 10 2 0 0 20
Revvity Omics, Revvity 0 1 13 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 6 4 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 1 5 7 0 0 13
New York Genome Center 0 2 8 0 0 10
OMIM 7 0 0 0 0 7
3billion 2 2 2 1 0 7
Baylor Genetics 1 0 5 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 0 0 5
MGZ Medical Genetics Center 0 1 4 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 3 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 4 0 0 5
Department of Rehabilitation, Children's Hospital of Nanjing Medical University 1 2 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 0 0 0 3
Genome-Nilou Lab 0 1 0 0 2 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 1 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 2
Mendelics 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
Tammimies Lab, Karolinska Institutet 0 0 1 0 0 1

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