Variants studied for Muenke 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
1	2	1	0	0	3

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
FGFR3	1	2	1	3

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	1	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	1	0	0	1
MGZ Medical Genetics Center	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	1
Department of Medical Genetics, Oslo University Hospital	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	1	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	1	0	0	1
Clinical Genomics Program, Stanford Medicine	0	0	1	1
3billion	0	1	0	1
Suma Genomics	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	1

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