ClinVar Miner

Variants studied for Crouzon syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
30 6 44 15 42 134

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 benign total
FGFR2 30 6 44 15 42 134

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 44 14 41 99
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
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
Mendelics 0 1 0 1 0 2
Baylor Genetics 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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