ClinVar Miner

Variants studied for Holt-Oram syndrome

Included ClinVar conditions (2):
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 total
77 22 68 15 52 224

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TBX5 77 22 68 13 52 222
TGFB2 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 44 8 49 102
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 52 13 4 0 0 69
Fulgent Genetics, Fulgent Genetics 1 1 13 5 0 20
OMIM 10 0 0 0 0 10
Baylor Genetics 4 1 2 0 0 7
Mendelics 2 0 0 3 2 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 6
Revvity Omics, Revvity 1 0 3 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Comparative, Adaptive and Functional Skeletal Biology, CCMAR - University of Algarve 2 0 0 0 0 2
3billion 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Larsen Research Group, University of Copenhagen 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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