ClinVar Miner

Variants studied for Weill-Marchesani syndrome

Included ClinVar conditions (14):
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 not provided total
41 39 835 130 234 3 1266

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 26 20 306 63 75 3 485
ADAMTS17 5 6 230 31 95 0 364
LTBP2 1 1 180 15 36 0 231
ADAMTS10 8 10 94 17 21 0 149
FBN1, LOC126862124 0 0 9 2 3 0 12
FBN1, LOC130057020 0 0 6 0 1 0 7
ADAMTS17, LOC130058037 1 0 3 0 1 0 5
FBN1, LOC113939944 0 0 2 1 1 0 4
FBN1, LOC130057019 0 0 2 1 1 0 4
ADAMTS10, LOC130063441 0 0 3 0 0 0 3
ADAMTS17, LOC113939942, LOC126862248 0 1 0 0 0 0 1
FBN1, LOC113939944, LOC126862125 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 575 105 219 0 898
Fulgent Genetics, Fulgent Genetics 13 10 229 20 3 0 275
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 8 46 6 1 0 70
Genome-Nilou Lab 0 0 0 0 26 0 26
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 3 17 1 0 0 0 21
OMIM 14 0 0 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 0 11
3billion 2 0 3 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 1 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Mendelics 0 0 1 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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