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 total
34 3 113 99 44 248

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
History of neurodevelopmental disorder 0 0 21 63 26 110
not provided 15 3 65 7 7 94
not specified 0 0 25 47 33 89
Smith-Magenis syndrome 14 0 6 0 7 27
Inborn genetic diseases 2 0 2 0 0 4
See cases 1 0 1 0 0 2
Deafness, autosomal recessive 9 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 2 0 23 63 26 114
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 49 10 23 87
Genetic Services Laboratory, University of Chicago 0 0 23 31 13 66
GeneDx 12 2 6 5 2 27
Athena Diagnostics Inc 0 1 6 4 11 22
PreventionGenetics 0 0 0 5 13 18
OMIM 7 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 2 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 5
Fulgent Genetics 0 0 4 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 3 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 1
ISCA site 6 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 1 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 1 0 0 0 0 1
University of Arizona Genetics Core,University of Arizona 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 1

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