ClinVar Miner

Variants studied for Weill-Marchesani syndrome 1

Included ClinVar conditions (1):
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
9 10 12 4 4 39

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ADAMTS10 8 10 12 4 4 38
LTBP2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 0 10 0 0 0 10
OMIM 7 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 0 7
Genome-Nilou Lab 0 0 0 0 4 4
Baylor Genetics 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 1 0 2
Mendelics 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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