ClinVar Miner

Variants in gene RAI1

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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
52 12 134 99 52 1 302

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 26 7 74 11 10 0 124
History of neurodevelopmental disorder 0 0 17 59 34 0 110
not specified 0 0 24 44 35 0 88
Smith-Magenis syndrome 17 2 19 3 11 1 51
Inborn genetic diseases 5 0 4 0 0 0 9
Intellectual disability 3 2 1 0 0 0 6
See cases 1 0 1 0 0 0 2
Deafness, autosomal recessive 9 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 5 0 21 59 34 0 119
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 49 10 23 0 87
Genetic Services Laboratory, University of Chicago 0 0 23 27 17 0 66
GeneDx 17 2 6 6 2 0 33
Athena Diagnostics Inc 0 1 6 4 15 0 26
PreventionGenetics, PreventionGenetics 0 0 0 5 13 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 11 3 0 0 17
OMIM 7 0 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 2 0 7
Baylor Genetics 0 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 1 2 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Mendelics 1 0 0 1 2 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 3 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 1 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 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
Undiagnosed Diseases Network,NIH 1 0 0 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1

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