Variants studied for Pfeiffer syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	8	6	6	0	43

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	24	7	3	5	37
FGFR1	1	1	3	0	5
FGFR1, LOC102723716	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 26

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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
Neuberg Centre For Genomic Medicine, NCGM	2	0	0	0	2
Baylor Genetics	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	1	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	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
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
MVZ Medizinische Genetik Mainz	0	1	0	0	1

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