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
31 19 28 3 4 81

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WNT5A 6 6 22 1 2 34
DVL1 14 6 4 1 0 24
DVL3 8 3 2 0 0 13
FZD2 2 4 0 0 0 6
ROR2 0 0 0 1 2 3
CHN1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 18 16 0 0 0 34
Illumina Clinical Services Laboratory,Illumina 0 0 14 2 3 18
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 4 0 0 6
Baylor Genetics 1 0 3 0 0 4
Mendelics 1 0 0 1 1 3
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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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
Autoinflammatory diseases unit,CHU de Montpellier 1 0 0 0 0 1
Central Lab,Second People's Hospital of Yunnan Province 1 0 0 0 0 1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 1 0 0 0 0 1

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