ClinVar Miner

Variants studied for Amelogenesis imperfecta hypomaturation type 2A3

Coded as:
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
6 30 239 17 12 304

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 30 239 17 12 304

Submitter and significance breakdown #

Total submitters: 13
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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 0 110 14 4 128
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 2
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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
3billion, Medical Genetics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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