Variants studied for Greig cephalopolysyndactyly 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	not provided	total
25	5	91	33	96	1	246

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	benign	not provided	total
GLI3	23	5	91	33	96	1	244
GLI3, INHBA	1	0	0	0	0	0	1
GLI3, LOC110120590, LOC110121030, LOC110121152	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 26

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	84	27	94	0	205
OMIM	9	0	0	0	0	0	9
Mendelics	0	1	0	3	1	0	5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	5	0	0	0	0	0	5
Service de Génétique Moléculaire, Hôpital Robert Debré	0	0	0	4	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	2	0	0	0	3
Ali Lab, Centre for Genetic Disorders, Banaras Hindu University	3	0	0	0	0	0	3
Institute of Human Genetics, University of Goettingen	2	0	0	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	1	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	1	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	0	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	0	1	0	0	1
Yale Center for Mendelian Genomics, Yale University	0	1	0	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	1	0	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	1	0	0	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
3billion	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	1	0	0	0	0	0	1

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