ClinVar Miner

Variants in gene RAI1

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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
87 31 910 868 310 2 1883

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 49 9 757 740 296 0 1732
Inborn genetic diseases 8 0 95 157 49 0 309
RAI1-related condition 1 4 99 185 16 0 305
Smith-Magenis syndrome 26 15 45 15 12 1 110
not specified 0 0 32 47 39 0 107
Intellectual disability 3 2 1 0 0 0 6
See cases 1 0 2 1 0 0 4
Developmental disorder 1 0 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Smith-Magenis syndrome; PMP22-RAI1 contiguous gene duplication syndrome; Deafness 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 1 624 675 264 0 1577
PreventionGenetics, part of Exact Sciences 1 4 99 186 26 0 316
Ambry Genetics 8 0 95 158 49 0 310
GeneDx 22 2 78 58 79 0 239
CeGaT Center for Human Genetics Tuebingen 7 1 19 59 14 0 100
Eurofins Ntd Llc (ga) 5 0 49 10 23 0 87
Genetic Services Laboratory, University of Chicago 0 0 27 36 20 0 83
Athena Diagnostics Inc 0 1 8 4 16 0 29
Fulgent Genetics, Fulgent Genetics 0 0 6 11 1 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 8 10 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 11 4 0 16
New York Genome Center 0 0 14 0 0 0 14
Revvity Omics, Revvity 0 0 9 0 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 8 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 3 0 0 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 0 1 6 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 2 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 3 0 0 0 6
Mendelics 1 1 0 1 3 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 6 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 1 2 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 1 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 3 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 1 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 1 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 0 2
3billion 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
ISCA Site 6 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 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
Center for Statistical Genetics, Columbia University 0 1 0 0 0 0 1
University of Arizona Genetics Core, University of Arizona 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1

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