ClinVar Miner

Variants in gene TRIO

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
37 31 97 68 43 266

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 17 15 39 66 43 178
Mental retardation, autosomal dominant 44 14 9 29 0 0 51
Inborn genetic diseases 5 3 13 0 0 21
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 5 1 5 0 0 11
Intellectual disability 0 3 7 0 0 10
not specified 0 0 2 1 0 3
Autistic disorder of childhood onset; Intellectual disability 0 0 1 0 0 1
Deafness, autosomal recessive 28 0 1 0 0 0 1
Intellectual disability, autosomal dominant 49 0 1 0 0 0 1
Microcephaly 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 1
Seizures 0 0 1 0 0 1
Toe walking 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 7 57 38 107
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 18 4 0 27
Ambry Genetics 5 3 13 0 0 21
Baylor Genetics 1 1 15 0 0 17
OMIM 13 0 0 0 0 13
GeneDx 3 6 2 1 0 12
SIB Swiss Institute of Bioinformatics 9 2 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 4 0 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 6 0 0 7
GeneReviews 7 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 5 1 7
Diagnostic Laboratory, Strasbourg University Hospital 0 2 5 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 4 0 0 7
New York Genome Center 0 0 6 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 5 5
Illumina Clinical Services Laboratory,Illumina 0 0 5 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 1 0 0 1

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