ClinVar Miner

Variants in gene SETD5

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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
172 88 571 390 91 11 1210

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 106 26 468 339 91 0 984
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 68 48 66 3 1 8 184
Inborn genetic diseases 13 0 44 55 0 0 112
SETD5-related disorder 4 5 24 27 4 1 65
not specified 0 0 21 11 2 0 34
See cases 3 1 3 0 0 0 7
Intellectual disability 3 1 1 0 0 1 6
Developmental disorder 2 0 1 0 0 0 3
Moyamoya angiopathy with developmental delay 0 3 0 0 0 0 3
Neurodevelopmental disorder 2 0 1 0 0 0 3
KBG syndrome 2 0 0 0 0 0 2
Neurodevelopmental abnormality 2 0 0 0 0 0 2
Rare genetic intellectual disability 0 2 0 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
Chromatinopathy 0 1 0 0 0 0 1
Cornelia de Lange-like syndrome 1 0 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Global developmental delay; Heart, malformation of; Hearing impairment 0 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 0 1 0 0 0 1
Intellectual disability; Cleft palate; Cleft lip 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
NK-cell enteropathy 0 1 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Polymicrogyria 0 1 0 0 0 0 1
SETD5-related syndromic intellectual disability 0 0 1 0 0 0 1
Syndromic intellectual disability; Non-syndromic intellectual disability 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 32 4 257 291 51 0 635
GeneDx 57 12 201 51 55 0 376
Ambry Genetics 13 0 44 55 0 0 112
CeGaT Center for Human Genetics Tuebingen 10 4 37 41 3 0 95
PreventionGenetics, part of Exact Sciences 3 5 24 27 4 0 63
Breakthrough Genomics, Breakthrough Genomics 0 0 3 12 18 0 33
Genetic Services Laboratory, University of Chicago 0 1 10 8 2 0 21
Revvity Omics, Revvity 1 3 14 1 0 0 19
Baylor Genetics 5 1 12 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 3 2 0 0 0 18
New York Genome Center 1 1 12 0 0 0 14
GenomeConnect - Brain Gene Registry 0 0 0 0 0 11 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 1 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 1 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 6 1 1 0 0 0 8
OMIM 7 0 0 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 4 1 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 4 1 1 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 2 0 0 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 5 0 1 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 2 0 0 0 0 5
MGZ Medical Genetics Center 0 3 2 0 0 0 5
Mendelics 1 2 2 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 5 0 0 0 5
Autoinflammatory diseases unit, CHU de Montpellier 4 1 0 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 2 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 0 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 2 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 1 2 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 2 0 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 2 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 1 1 0 0 0 3
Molecular Genetics laboratory, Necker Hospital 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 2 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
3billion, Medical Genetics 0 2 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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