ClinVar Miner

Variants studied for ACAN-related short stature spectrum

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
35 47 56 5 55 193

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
ACAN 34 47 55 5 55 192
​intergenic 1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 54 54
Autoinflammatory diseases unit, CHU de Montpellier 2 13 0 0 0 15
3billion 3 7 2 0 0 12
Fulgent Genetics, Fulgent Genetics 3 2 4 2 1 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 1 7 0 0 8
Mendelics 3 1 0 2 1 7
OMIM 7 0 0 0 0 7
Baylor Genetics 0 0 5 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 4 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 1 2 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 1 0 0 0 3
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez 2 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 3
New York Genome Center 0 1 2 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 1 0 0 2
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 2 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 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
Bicknell laboratory, University of Otago 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1
H. Huang Group, Central South University 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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