ClinVar Miner

Variants studied for Geleophysic dysplasia 2

Included ClinVar conditions (2):
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
18 12 25 0 0 55

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 18 12 25 55

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 10 3 14 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 8 10 21
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
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

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