ClinVar Miner

Variants studied for Renal cysts and diabetes syndrome

Coded as:
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
158 85 78 16 25 342

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
HNF1B 144 73 69 12 23 301
HNF1B, LOC126862549 14 12 7 3 1 37
GATA4 0 0 1 0 0 1
PARK7 0 0 0 1 0 1
PAX2 0 0 1 0 0 1
PRKAG2 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 217
Illumina Laboratory Services, Illumina 0 0 25 10 22 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 10 4 4 2 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 3 4 0 0 18
MVZ Medizinische Genetik Mainz 3 7 8 0 0 18
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 14
OMIM 12 0 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 3 1 1 10
3billion 2 0 4 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 4
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 3
Baylor Genetics 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 1

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