Variants studied for Geleophysic dysplasia 2

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
5	2	2	0	0	8

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
FBN1	5	2	2	8

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	4	0	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	1	0	1
Pediatric Department, The First Affiliated Hospital of Guangxi Medical University	1	0	0	1
Human Genetics Section, Sidra Medicine	0	1	0	1
Pars Genome Lab	1	0	0	1
Suma Genomics	1	0	0	1
Molecular Lab, Department of Haematology, Christian Medical College	0	0	1	1

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