ClinVar Miner

Variants studied for Crouzon syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
37 13 118 33 42 236

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR2 36 13 118 33 42 235
FGFR3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 9 2 78 23 1 112
Illumina Laboratory Services, Illumina 0 0 42 10 41 93
OMIM 17 0 0 0 0 17
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 14 2 0 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 6 0 0 0 0 6
3billion 4 0 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 3 1 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 2
Mendelics 0 1 0 1 0 2
Baylor Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Department of Genetics and Metabolic disease, Clinical hospital Center Osijek 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1

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