ClinVar Miner

Variants studied for Tatton-Brown-Rahman overgrowth syndrome

Coded as:
Minimum submission review status: Collection method:
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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
67 31 150 170 21 6 436

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 62 31 144 167 21 6 422
DNMT3A, LOC129933290 1 0 3 3 0 0 7
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: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 38 7 140 168 21 0 374
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 2 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Genologica Medica 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
3billion 1 1 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 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
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
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
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1

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