ClinVar Miner

Variants studied for amelogenesis imperfecta hypomaturation type 2A3

Included ClinVar conditions (2):
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
5 9 111 16 12 153

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 5 9 111 16 12 153

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 110 14 4 128
Fulgent Genetics, Fulgent Genetics 2 1 6 3 0 12
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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 2
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
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion 1 0 0 0 0 1

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