ClinVar Miner

Variants studied for autosomal dominant Robinow syndrome

Included ClinVar conditions (3):
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
23 13 48 30 18 130

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 total
WNT5A 5 3 46 28 16 96
DVL1 10 4 1 1 0 16
DVL3 7 2 0 0 0 9
FZD2 1 4 0 0 0 5
ROR2 0 0 1 1 2 4

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 41 29 17 86
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 12 11 0 0 0 23
OMIM 15 0 0 0 0 15
GeneReviews 12 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 0 1 5 0 0 6
Mendelics 1 0 0 1 1 3
Baylor Genetics 1 0 1 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Human Genetics Laboratory,State University of Rio de Janeiro 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1

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