ClinVar Miner

Variants studied for spondyloepiphyseal dysplasia tarda, X-linked

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
19 4 33 6 19 80

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 total
TRAPPC2 3 1 28 5 17 54
OFD1, TRAPPC2 16 3 4 1 2 25
LOC126863212, OFD1, TRAPPC2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 29 6 18 53
OMIM 11 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 1
3billion, Medical Genetics 1 0 0 0 0 1
Instituto de Genética, Servicios Medicos Yunis Turbay Cia. SAS 1 0 0 0 0 1
Clinical Genetics Laboratory, Henan Provincial People's Hospital 1 0 0 0 0 1

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