ClinVar Miner

Variants studied for Galloway-Mowat syndrome

Included ClinVar conditions (13):
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
41 31 46 11 23 146

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR73 10 11 21 6 3 49
OSGEP 5 6 7 0 3 20
TP53RK 4 3 5 2 0 14
WDR4 5 3 1 1 5 13
LOC107372315, OSGEP 3 5 1 0 2 10
LAGE3 2 0 4 0 2 8
NUP107 2 1 0 1 3 7
TPRKB 2 1 1 1 1 6
ZNF592 0 0 3 0 2 5
LAGE3, LOC130068876 1 0 2 0 0 3
NUP133 1 1 0 0 1 3
YRDC 3 0 0 0 0 3
GON7 2 0 0 0 0 2
C1orf122, LOC129930167, YRDC 1 0 0 0 0 1
ENG 0 0 0 0 1 1
LOC130065998, TP53RK, TP53RK-DT 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 40 0 1 0 0 41
Fulgent Genetics, Fulgent Genetics 0 0 12 11 1 24
Genome-Nilou Lab 0 1 0 0 18 19
Baylor Genetics 0 1 10 0 0 11
Revvity Omics, Revvity 1 1 9 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 1 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 1 0 0 4
New York Genome Center 0 1 2 0 0 3
Suma Genomics 0 2 1 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 2
Mendelics 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 2
3billion 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
DASA 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1
Fetal Health Research Center, Hope Generation Foundation 0 1 0 0 0 1

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