ClinVar Miner

Variants studied for amelogenesis imperfecta type 2

Included ClinVar conditions (8):
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
43 44 291 18 18 1 411

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WDR72 6 30 239 17 12 0 304
MMP20 10 6 48 1 6 0 69
AMELX, ARHGAP6 12 4 1 0 0 0 17
KLK4 3 3 1 0 0 1 6
GPR68 3 1 1 0 0 0 5
ODAPH 5 0 0 0 0 0 5
SLC24A4 4 0 1 0 0 0 5

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 154 15 10 0 180
Fulgent Genetics, Fulgent Genetics 3 21 135 4 0 0 163
OMIM 32 0 0 0 0 0 32
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 9 4 0 0 0 13
Genome-Nilou Lab 0 0 0 0 9 0 9
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 0 0 0 3
3billion 1 0 2 0 0 0 3
Institute of Human Genetics, University of Ulm 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Wang Lab, School of Dentistry, National Taiwan University 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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