ClinVar Miner

Variants studied for Sponastrime dysplasia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
14 21 19 0 12 1 59

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
TONSL 14 20 18 12 1 57
LOC130001399, TONSL 0 0 1 0 0 1
MIR6893, TONSL 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
University of Washington Center for Mendelian Genomics, University of Washington 0 12 0 0 0 12
Genome-Nilou Lab 0 0 0 12 0 12
OMIM 11 0 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 1 5 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 5 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 2 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Mendelics 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1

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