ClinVar Miner

Variants in gene DNMT3A

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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
126 92 341 338 43 21 878

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tatton-Brown-Rahman overgrowth syndrome 76 33 182 214 21 6 523
not provided 43 30 105 55 35 4 260
DNMT3A-related disorder 2 7 79 131 5 2 226
Inborn genetic diseases 9 4 28 62 0 0 103
not specified 1 0 9 5 3 5 23
Heyn-Sproul-Jackson syndrome 3 2 3 0 0 0 8
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome 1 3 2 0 1 0 7
EBV-positive nodal T- and NK-cell lymphoma 7 0 0 0 0 0 7
Intellectual disability 0 6 1 0 0 0 7
Acute myeloid leukemia 3 3 1 0 0 0 6
Autism spectrum disorder; Tatton-Brown-Rahman overgrowth syndrome 0 0 0 0 0 4 4
Neurodevelopmental disorder 2 1 1 0 0 0 4
See cases 1 3 0 0 0 0 4
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome 0 2 0 0 0 0 2
Autism spectrum disorder 0 1 0 1 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
Clonal Cytopenia of Undetermined Significance 1 0 0 0 0 0 1
Early T cell progenitor acute lymphoblastic leukemia 1 0 0 0 0 0 1
Glioblastoma 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1
Melanoma 1 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Myeloproliferative disorder 0 1 0 0 0 0 1
Neonatal hypotonia 0 1 0 0 0 0 1
Obesity; Global developmental delay; Specific learning disability; Macrocephaly; Optic disc pallor; Large for gestational age 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 8 172 214 21 0 462
PreventionGenetics, part of Exact Sciences 2 6 79 131 5 0 223
GeneDx 28 16 78 39 33 0 194
Ambry Genetics 9 4 28 62 0 0 103
CeGaT Center for Human Genetics Tuebingen 11 3 15 16 3 0 48
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 19 0 26
Clinical Genetics Laboratory, CHRU Nancy 7 7 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 0 0 5 4 3 0 12
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 0 4 5 0 0 0 9
New York Genome Center 3 0 5 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 8 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 2 0 0 0 7
Department of Clinical Pathology, School of Medicine, Fujita Health University 7 0 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 2 0 0 0 5
Mendelics 2 1 1 1 0 0 5
ITMI 0 0 0 0 0 5 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 1 1 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 1 4 0 0 0 0 5
Eurofins Ntd Llc (ga) 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 2 0 1 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Genologica Medica 3 0 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 2 1 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 0 0 0 0 0 3
3billion, Medical Genetics 1 1 1 0 0 0 3
MVZ Medizinische Genetik Mainz 1 2 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Dave Chen Lab, Washington University School of Medicine 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Murat Gunel Laboratory, Yale University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1 0 0 0 0 0 1
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 1 0 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 1

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