ClinVar Miner

Variants in gene SPEN

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 not provided total
62 25 430 180 43 1 713

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 39 3 157 96 17 0 306
Inborn genetic diseases 11 0 199 50 4 0 264
SPEN-related disorder 0 3 34 55 31 0 123
Radio-Tartaglia syndrome 21 16 41 2 3 0 82
not specified 0 0 5 2 3 0 10
See cases 0 0 4 1 0 0 5
Autism spectrum disorder 0 1 0 3 0 0 4
Developmental disorder 0 0 0 2 0 0 2
Neurodevelopmental delay 1 1 0 0 0 0 2
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
Encephalopathy 0 1 0 0 0 0 1
Myoepithelial tumor 1 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 1
SPEN-related neurodevelopmental disorder 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 11 0 199 50 4 0 264
GeneDx 10 2 115 1 3 0 131
CeGaT Center for Human Genetics Tuebingen 2 0 29 92 5 0 128
PreventionGenetics, part of Exact Sciences 0 3 34 55 31 0 123
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 30 0 0 0 0 0 30
Labcorp Genetics (formerly Invitae), Labcorp 1 0 5 3 6 0 15
Revvity Omics, Revvity 0 0 14 0 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 10 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 8 0 0 0 9
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 1 5 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 2 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 5 1 0 0 7
Baylor Genetics 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
New York Genome Center 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
3billion 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 1 0 0 0 0 0 1
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 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 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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