Variants studied for Weill-Marchesani syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	14	4	4	40

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ADAMTS10	8	10	14	4	4	39
LTBP2	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

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
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	2	0	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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.