ClinVar Miner

Variants studied for Robinow syndrome

Included ClinVar conditions (5):
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
34 15 126 47 41 258

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ROR2 8 2 79 18 25 129
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
NXN 2 0 0 0 0 2
LOC101927727, NXN 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 115 46 41 201
OMIM 25 0 0 0 0 25
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 12 11 0 0 0 23
GeneReviews 12 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 0 1 9 0 0 10
Mendelics 1 0 0 1 1 3
Baylor Genetics 1 0 1 0 0 2
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
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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