ClinVar Miner

Variants studied for Tatton-Brown-Rahman overgrowth syndrome

Coded as:
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Gene type:
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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 not provided total
82 35 191 219 21 6 545

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNMT3A 77 35 184 214 21 6 528
DNMT3A, LOC129933290 1 0 4 5 0 0 10
ADCY3, ASXL2, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, ITSN2, NCOA1, POMC, PTRHD1 1 0 1 0 0 0 2
ABHD1, ADCY3, ADGRF3, AGBL5, ASXL2, ATRAID, BABAM2, CAD, CCDC121, CENPA, CENPO, CGREF1, CIB4, CIMIP2C, DNAJC27, DNAJC5G, DNMT3A, DPYSL5, DRC1, DTNB, EFR3B, EIF2B4, EMILIN1, FNDC4, FOSL2, GAREM2, GCKR, GPN1, GTF3C2, HADHA, HADHB, IFT172, ITSN2, KCNK3, KHK, KIF3C, KRTCAP3, MAPRE3, MPV17, MRPL33, NCOA1, NRBP1, OST4, OTOF, PLB1, POMC, PPM1G, PPP1CB, PREB, PRR30, PTRHD1, RAB10, RBKS, SELENOI, SLC30A3, SLC35F6, SLC4A1AP, SLC5A6, SNX17, SPATA31H1, SUPT7L, TCF23, TMEM214, TRIM54, UCN, ZNF512, ZNF513 0 0 1 0 0 0 1
ADCY3, CENPO, DNAJC27, DNMT3A, EFR3B, ITSN2, NCOA1, POMC, PTRHD1 1 0 0 0 0 0 1
DNMT3A, LOC122756673, LOC129933287, LOC129933288, LOC129933289, LOC129933290, LOC129933291, LOC129933292, LOC129933293, LOC129933294, LOC129933295, LOC129933296, LOC129933297, LOC129933298, MIR1301 1 0 0 0 0 0 1
DNMT3A, LOC129933288 0 0 1 0 0 0 1
DNMT3A, POMC 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 52 8 177 217 21 0 475
Clinical Genetics Laboratory, CHRU Nancy 7 7 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 4 0 0 0 9
OMIM 7 0 0 0 0 0 7
New York Genome Center 3 0 3 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 4 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 4
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
3billion 1 2 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 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
Mendelics 0 0 0 1 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
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Dave Chen Lab, Washington University School of Medicine 1 0 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 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
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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