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 total
40 19 164 17 18 255

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 total
WDR72 5 9 111 16 12 153
MMP20 9 5 50 1 6 69
AMELX, ARHGAP6 11 2 0 0 0 13
KLK4 3 3 1 0 0 6
ODAPH 5 0 0 0 0 5
SLC24A4 4 0 1 0 0 5
GPR68 3 0 1 0 0 4

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 158 15 10 184
OMIM 32 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 13
Fulgent Genetics, Fulgent Genetics 2 1 6 3 0 12
Genome-Nilou Lab 0 0 0 0 9 9
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 5 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 2
3billion 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 1
Wang Lab, School of Dentistry, National Taiwan University 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 1

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