ClinVar Miner

Variants studied for Holt-Oram syndrome

Coded as:
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
71 17 64 15 52 211

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 71 17 64 13 52 209
TGFB2 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 28
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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 50 11 3 0 0 64
Fulgent Genetics, Fulgent Genetics 1 0 13 5 0 19
OMIM 10 0 0 0 0 10
Baylor Genetics 4 1 2 0 0 7
Mendelics 2 0 0 3 2 7
Revvity Omics, Revvity Omics 1 0 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
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
CHU Sainte-Justine Research Center, University of Montreal 0 1 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
Larsen Research Group, University of Copenhagen 1 0 0 0 0 1

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