ClinVar Miner

Variants studied for Townes-Brocks syndrome 1

Included ClinVar conditions (1):
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
22 8 53 28 8 2 116

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SALL1 22 8 53 28 8 2 116

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 3 0 19 25 1 0 48
Illumina Laboratory Services, Illumina 1 0 8 2 1 0 12
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity 2 0 4 1 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 4 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 1 0 0 0 3
Mendelics 1 0 1 1 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
3billion 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Neonatology Unit, University Hospital of Modena 1 0 0 0 0 0 1
Neonatal Intensive Care Unit, Fujian Provincial Hospital 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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