ClinVar Miner

Variants studied for Gabriele de Vries syndrome

Included ClinVar conditions (1):
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
12 10 14 1 0 36

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
YY1 10 9 12 1 31
LOC130056453, YY1 1 1 1 0 3
BEGAIN, DEGS2, EML1, EVL, SLC25A29, SLC25A47, WARS1, WDR25, YY1 1 0 0 0 1
LOC130056452, YY1 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 5 0 0 0 5
Baylor Genetics 0 2 3 0 5
Revvity Omics, Revvity 0 0 4 1 5
Laboratory of Human Genetics, Universidade de São Paulo 2 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 2
New York Genome Center 0 0 2 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 1
3billion 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 1 0 0 0 1

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