ClinVar Miner

Variants studied for Weill-Marchesani syndrome

Included ClinVar conditions (8):
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
28 12 613 105 220 1 972

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAMTS17 5 0 227 30 89 0 349
FBN1 14 12 133 46 80 1 282
LTBP2 1 0 163 14 31 0 208
ADAMTS10 8 0 90 14 19 0 131
FBN1, LOC113939944 0 0 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 574 105 219 0 897
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 8 27 0 0 0 38
Fulgent Genetics,Fulgent Genetics 10 3 14 0 0 0 27
OMIM 14 0 0 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 0 11
Baylor Genetics 0 0 4 0 0 0 4
Mendelics 0 0 1 0 2 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 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
Nilou-Genome Lab 0 0 0 0 1 0 1

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