ClinVar Miner

Variants in gene RAI1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
121 54 1255 1153 391 26 2502

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 67 11 916 907 376 0 2126
RAI1-related disorder 2 12 251 347 16 0 628
Inborn genetic diseases 14 0 192 269 50 0 525
not specified 0 0 68 72 42 0 167
Smith-Magenis syndrome 39 27 67 19 14 1 162
Intellectual disability 4 2 1 3 1 0 11
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
See cases 1 0 2 1 0 0 4
Cervical cancer 0 0 0 0 0 2 2
Developmental disorder 1 0 0 1 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Smith-Magenis syndrome; 17p11.2 microduplication syndrome 0 0 0 0 0 1 1
Smith-Magenis syndrome; PMP22-RAI1 contiguous gene duplication syndrome 0 0 0 0 0 1 1
Smith-Magenis syndrome; PMP22-RAI1 contiguous gene duplication syndrome; Deafness 0 0 0 0 0 1 1
Syndromic intellectual disability 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Vascular disorder 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 25 1 747 823 344 0 1940
PreventionGenetics, part of Exact Sciences 2 12 251 348 26 0 639
Ambry Genetics 14 0 192 269 50 0 525
GeneDx 28 3 116 58 79 0 284
CeGaT Center for Human Genetics Tuebingen 9 1 27 103 16 0 156
Eurofins Ntd Llc (ga) 5 0 49 10 23 0 87
Genetic Services Laboratory, University of Chicago 1 0 27 36 20 0 84
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 39 16 0 0 59
Breakthrough Genomics, Breakthrough Genomics 0 0 3 12 20 0 35
Athena Diagnostics 0 1 9 4 18 0 32
Fulgent Genetics, Fulgent Genetics 0 2 12 11 1 0 26
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 22 22
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
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 10 5 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1 14 0 16
New York Genome Center 0 0 14 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 2 2 0 12
Revvity Omics, Revvity 0 0 11 0 0 0 11
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
Baylor Genetics 0 1 6 0 0 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 1 4 1 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 2 0 7
OMIM 7 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 6 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
Mendelics 1 1 0 1 3 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 1 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 1 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 1 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 3 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 1 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 1 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 - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 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
Center for Statistical Genetics, Columbia University 0 1 0 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, 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 Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
ISCA Site 6 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 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
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
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 1 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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 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
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 Arizona Genetics Core, University of Arizona 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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