ClinVar Miner

Variants studied for Spondyloepiphyseal dysplasia congenita

Coded as:
Minimum submission review status: Collection method:
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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
28 15 102 32 23 198

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHST3 0 0 92 31 20 143
COL2A1 27 14 4 0 0 43
TRAPPC2 0 0 5 1 3 9
CLASP1, RNU4ATAC 1 1 0 0 0 2
BNIP1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 97 32 23 152
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 12 3 1 0 0 16
OMIM 6 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 2 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
DASA 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 1

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