ClinVar Miner

Variants studied for Galloway-Mowat syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
49 50 163 19 23 286

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 16 16 87 9 3 125
TP53RK 4 8 38 6 0 52
OSGEP 5 7 7 0 3 19
WDR4 5 6 3 2 5 19
LOC107372315, OSGEP 4 8 1 0 2 13
LAGE3 2 0 6 0 2 10
NUP107 2 2 3 1 3 10
TPRKB 2 1 3 1 1 8
LOC130065998, TP53RK, TP53RK-DT 1 1 5 0 0 7
NUP133 1 1 3 0 1 6
ZNF592 0 0 3 0 2 5
LAGE3, LOC130068876 1 0 3 0 0 4
GON7 2 0 1 0 0 3
YRDC 3 0 0 0 0 3
C1orf122, LOC129930167, YRDC 1 0 0 0 0 1
ENG 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 12 112 17 1 143
OMIM 40 0 1 0 0 41
Genome-Nilou Lab 0 1 0 0 18 19
Revvity Omics, Revvity 1 4 9 0 0 14
Baylor Genetics 0 1 10 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 1 9 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 3 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 3 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 0 0 6
3billion 1 1 1 2 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 1 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 1 1 2 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 4 0 0 0 0 4
New York Genome Center 0 1 3 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 0 2 0 0 3
Suma Genomics 0 2 1 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 2
Mendelics 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1
Dasa 0 1 0 0 0 1
Fetal Health Research Center, Hope Generation Foundation 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1

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