ClinVar Miner

Variants in gene TRRAP

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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
14 28 1189 1118 251 98 2525

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 7 885 1027 249 0 2126
Inborn genetic diseases 1 1 247 80 0 0 329
Developmental delay with or without dysmorphic facies and autism 9 14 106 2 2 1 131
TRRAP-related disorder 0 1 43 64 8 3 119
not specified 0 0 25 11 3 0 39
Ovarian serous cystadenocarcinoma 0 0 0 0 0 22 22
Hearing loss, autosomal dominant 75 1 1 10 0 2 0 14
Cervical cancer 0 0 0 0 0 11 11
Malignant tumor of esophagus 0 0 0 0 0 11 11
Acute myeloid leukemia 0 0 0 0 0 10 10
Thymoma 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Sarcoma 0 0 0 0 0 9 9
See cases 0 1 8 0 0 0 9
Developmental delay with or without dysmorphic facies and autism; Hearing loss, autosomal dominant 75 0 1 6 1 0 1 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Uterine carcinosarcoma 0 0 0 0 0 6 6
Cholangiocarcinoma 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 5 5
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Developmental disorder 0 0 0 3 0 0 3
Familial cancer of breast 0 0 0 0 0 3 3
Familial pancreatic carcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Lymphoma 0 0 0 0 0 3 3
TRRAP-related neurodevelopmental disorder 0 1 2 0 0 0 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Complex neurodevelopmental disorder with or without congenital anomalies 0 0 1 1 0 0 2
Global developmental delay 0 1 1 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Neurodevelopmental disorder 0 1 1 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Developmental delay with or without dysmorphic facies and autism; TRAPP-associated developmental delay 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Teratoma 0 0 1 0 0 0 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 2 573 982 191 0 1750
Ambry Genetics 1 1 247 80 0 0 329
GeneDx 4 5 245 0 69 0 323
CeGaT Center for Human Genetics Tuebingen 0 0 37 102 7 0 146
PreventionGenetics, part of Exact Sciences 0 1 43 64 8 0 116
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 93 93
Breakthrough Genomics, Breakthrough Genomics 0 0 2 8 61 0 71
Revvity Omics, Revvity 0 0 52 0 0 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 23 4 0 0 27
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 23 0 0 0 23
3billion 1 1 14 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 15 0 0 0 16
Baylor Genetics 1 1 9 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 1 8 0 0 0 10
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 7 2 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 9 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 3 0 0 8
OMIM 6 0 0 0 0 0 6
Centre of Medical Genetics, University Hospital Muenster 0 1 4 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 4 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 0 4
MGZ Medical Genetics Center 0 0 4 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 3 0 0 0 3
Gharavi Laboratory, Columbia University 0 3 0 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 1 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Mendelics 0 1 1 0 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 1 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 2 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 2 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Clinical Genomics, G42 Labs 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 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 of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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