ClinVar Miner

Variants studied for achondrogenesis type II

Included ClinVar conditions (9):
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
27 27 25 12 3 3 97

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 27 27 25 12 3 3 97

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 8 4 12 11 3 0 38
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 5 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 5 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 4 0 0 0 9
OMIM 4 0 0 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 0 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 1

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