ClinVar Miner

Variants in gene TRIO

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
61 65 545 360 227 11 1177

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 38 19 356 302 222 0 887
Inborn genetic diseases 6 4 86 31 3 0 130
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 20 26 54 0 13 8 110
TRIO-related condition 2 5 33 57 9 0 106
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 7 6 9 1 13 0 36
not specified 0 1 15 8 7 0 31
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 10 4 0 0 14
Intellectual disability 0 3 7 0 0 0 10
See cases 0 1 6 0 0 0 7
Tip-toe gait 0 2 1 0 0 0 3
Autism spectrum disorder 0 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 28 0 1 1 0 0 0 2
Developmental delay 1 0 1 0 0 0 2
Neurodevelopmental disorder 0 0 1 0 0 1 2
TRIO-Related Disorder 1 0 0 0 0 2 2
TRIO-Related Disorders 0 2 0 0 0 0 2
Autism; Intellectual disability 0 0 1 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 40 0 0 1 0 0 0 1
Microcephaly 0 1 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Seizure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 23 6 218 158 201 0 606
CeGaT Center for Human Genetics Tuebingen 1 6 63 102 11 0 183
Ambry Genetics 6 4 86 31 3 0 130
Invitae 7 0 17 58 35 0 117
PreventionGenetics, part of Exact Sciences 2 5 33 57 9 0 106
Revvity Omics, Revvity 0 1 52 0 0 0 53
Baylor Genetics 2 1 15 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 12 3 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 4 7 6 0 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 12 0 0 0 15
OMIM 13 0 0 0 0 0 13
New York Genome Center 0 0 13 0 0 0 13
Genome-Nilou Lab 0 0 0 0 13 0 13
Genetic Services Laboratory, University of Chicago 0 0 0 5 6 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 8 1 0 0 11
SIB Swiss Institute of Bioinformatics 9 2 0 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 5 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 7 0 0 0 9
GeneReviews 0 0 0 0 0 7 7
Diagnostic Laboratory, Strasbourg University Hospital 0 2 5 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
Eurofins Ntd Llc (ga) 0 1 5 0 0 0 6
Illumina Laboratory Services, Illumina 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 1 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
3billion 4 0 2 0 0 0 6
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 5 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 4 0 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 4 0 0 5
Mendelics 1 1 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 4 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 4 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 0 1 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 1 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 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

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