ClinVar Miner

Variants studied for Radio-Tartaglia 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
20 13 40 2 3 77

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SPEN 20 13 40 2 3 77

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Revvity Omics, Revvity 0 0 14 0 0 14
Baylor Genetics 0 0 6 0 0 6
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 1 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 4
New York Genome Center 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
3billion, Medical Genetics 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 1

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