ClinVar Miner

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

Included ClinVar conditions (5):
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
17 22 26 4 53 1 121

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 uncertain risk allele total
ACAN 16 22 26 4 53 0 120
​intergenic 1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele total
Genome-Nilou Lab 0 0 0 0 52 0 52
Institute of Human Genetics, University of Leipzig Medical Center 0 1 6 0 0 0 7
Mendelics 2 1 0 2 1 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 2 1 0 5
3billion 1 3 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 1 2 1 0 0 0 4
OMIM 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 2 0 0 0 0 1 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 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
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Bicknell laboratory, University of Otago 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 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 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
H. Huang Group, Central South University 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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