ClinVar Miner

Variants studied for Ehlers-Danlos/osteogenesis imperfecta syndrome

Included ClinVar conditions (12):
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 not provided total
40 20 28 15 5 3 111

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL1A1 24 9 13 10 5 0 61
COL1A2 15 10 15 5 0 2 47
COL1A1, LOC126862586 1 1 0 0 0 1 3

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 19 7 17 13 4 0 60
Juno Genomics, Hangzhou Juno Genomics, Inc 9 5 2 0 0 0 16
OMIM 9 0 0 0 0 0 9
MGZ Medical Genetics Center 1 2 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
3billion, Medical Genetics 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 0 1 0 0 1

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