ClinVar Miner

Variants in gene WDR72

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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
16 34 360 55 47 496

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Amelogenesis imperfecta hypomaturation type 2A3 6 30 239 17 12 304
Inborn genetic diseases 1 0 105 7 0 113
not provided 3 1 19 23 38 82
Amelogenesis Imperfecta, Recessive 0 0 41 24 10 75
WDR72-related disorder 0 1 2 4 5 12
Amelogenesis imperfecta 4 2 0 0 0 6
not specified 0 0 0 0 6 6
Distal renal tubular acidosis 0 2 0 0 0 2
Renal tubular acidosis, distal, 4, with hemolytic anemia 2 0 0 0 0 2
Hypophosphatemic rickets 1 0 0 0 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia; Amelogenesis imperfecta hypomaturation type 2A3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 150 38 14 202
Fulgent Genetics, Fulgent Genetics 3 20 135 4 0 162
Ambry Genetics 1 0 105 7 0 113
Breakthrough Genomics, Breakthrough Genomics 0 0 16 18 15 49
GeneDx 2 1 1 0 31 35
PreventionGenetics, part of Exact Sciences 0 1 2 4 11 18
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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 3 0 4
Dental Genetics Laboratory, Seoul National University School of Dentistry 4 0 0 0 0 4
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 2
3billion 1 0 1 0 0 2
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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