ClinVar Miner

Variants studied for autosomal dominant Robinow syndrome

Included ClinVar conditions (4):
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
31 23 53 13 9 18 124

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 not provided total
WNT5A 5 6 35 8 2 4 54
DVL1 13 4 13 4 5 7 38
DVL3 8 6 5 0 0 6 18
FZD2 2 4 0 0 0 0 6
DVL1, LOC129929114 2 3 0 0 0 1 4
ROR2 0 0 0 1 2 0 3
CHN1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 18 16 0 0 0 0 34
Fulgent Genetics, Fulgent Genetics 0 0 11 9 0 0 20
GeneReviews 0 0 0 0 0 18 18
Illumina Laboratory Services, Illumina 0 0 14 2 3 0 18
OMIM 15 0 0 0 0 0 15
Revvity Omics, Revvity 0 0 8 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 1 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 4 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Mendelics 2 0 0 1 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 0 3
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
The Division of Genetics and Genomic Medicine, Washington University School of Medicine 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Human Genetics Laboratory, State University of Rio de Janeiro 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 0 1
Central Lab, Second People's Hospital of Yunnan Province 1 0 0 0 0 0 1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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