ClinVar Miner

Variants studied for Rauch-Steindl syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 15 15 0 0 45

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NSD2 17 15 15 45

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 3
3billion 1 2 0 3
MVZ Medizinische Genetik Mainz 0 1 2 3
Revvity Omics, Revvity 0 1 1 2
Baylor Genetics 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 1
MGZ Medical Genetics Center 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1
Mendelics 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 1
Undiagnosed Diseases Network, NIH 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 1
New York Genome Center 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 1
Solve-RD Consortium 0 1 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 1

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