ClinVar Miner

Variants studied for Amelogenesis imperfecta hypomaturation type 2A3

Coded as:
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
6 31 239 18 12 305

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 total
WDR72 6 31 239 18 12 305

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 3 20 135 4 0 162
Illumina Laboratory Services, Illumina 0 0 109 14 4 127
Genome-Nilou Lab 0 0 0 0 8 8
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 5 1 0 0 6
OMIM 4 0 0 0 0 4
3billion 1 0 1 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 2
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 1 0 1 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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