ClinVar Miner

Variants studied for Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

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 uncertain risk allele total
13 28 12 0 36 1 89

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign uncertain risk allele total
ACAN 12 28 12 36 0 88
​intergenic 1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance benign uncertain risk allele total
Genome-Nilou Lab 0 0 0 35 0 35
Autoinflammatory diseases unit, CHU de Montpellier 2 11 0 0 0 13
3billion, Medical Genetics 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 4
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 1 2 1 0 0 4
OMIM 3 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Mendelics 1 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 2
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 2 0 0 0 1 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 2
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 0 2 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
H. Huang Group, Central South University 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 1

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