ClinVar Miner

Variants studied for Gabriele de Vries syndrome

Included ClinVar conditions (1):
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
17 16 17 2 0 50

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
YY1 14 15 15 2 44
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
LOC130056456, LOC130056457, MIR6764, SLC25A29, YY1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 0 2 3 0 5
OMIM 5 0 0 0 5
Revvity Omics, Revvity 0 0 4 1 5
Laboratory of Human Genetics, Universidade de São Paulo 2 2 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 3
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 3
3billion 1 1 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 2
New York Genome Center 0 0 2 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 1
CGC Genetics, Unilabs 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 1
Department of Genetics, HCU Lozano Blesa 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 1 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 1
Medical Genetics Clinic, University of Catania 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 1

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