ClinVar Miner

Variants studied for Smith-Magenis syndrome

Coded as:
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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 not provided total
46 28 67 19 14 2 171

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAI1 39 27 67 19 14 1 162
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 1 2
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MYO15A, NT5M, PEMT, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 1
LOC112529899, LOC130060389, RAI1 1 0 0 0 0 0 1
MIR33B, RAI1, SREBF1, TOM1L2 1 0 0 0 0 0 1
SMS 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 2 12 11 1 0 26
New York Genome Center 0 0 13 0 0 0 13
Revvity Omics, Revvity 0 0 11 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 1 1 0 9
Baylor Genetics 1 1 6 0 0 0 8
OMIM 7 0 0 0 0 0 7
Athena Diagnostics 0 0 0 0 6 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
3billion 0 3 0 2 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 1 2 0 5
Mendelics 1 1 0 1 2 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Variantyx, Inc. 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 0 2
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 1 0 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 1 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Elsea Lab, Dept of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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