ClinVar Miner

Variants studied for Spondyloepiphyseal dysplasia with congenital joint dislocations

Coded as:
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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
36 16 266 148 38 480

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHST3 36 16 266 148 38 480

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 18 2 112 116 16 264
Illumina Laboratory Services, Illumina 0 0 149 32 25 206
OMIM 13 0 0 0 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 7 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 2 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 0 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1

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