ClinVar Miner

Variants studied for heart-hand syndrome

Included ClinVar conditions (8):
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
86 27 163 39 55 360

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TBX5 77 20 68 13 52 221
LMNA 8 7 82 19 1 116
MYH8, MYHAS 1 0 4 3 0 8
LMNA, LOC126805877 0 0 6 1 0 7
LMNA, LOC129931597 0 0 3 1 1 5
TGFB2 0 0 0 2 0 2
LOC126862494, MYH8, MYHAS 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 6 3 102 29 2 142
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
OMIM 13 0 0 0 0 13
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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
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
Solve-RD Consortium 0 2 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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
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
Suma Genomics 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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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