ClinVar Miner

Variants studied for Pfeiffer syndrome

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 total
28 9 8 6 0 48

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FGFR2 27 7 4 5 40
FGFR1 1 2 4 0 7
FGFR1, LOC102723716 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 12 4 0 0 16
OMIM 13 0 0 0 13
Illumina Laboratory Services, Illumina 0 0 2 5 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 1 6
3billion 4 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 2
Baylor Genetics 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 1

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