ClinVar Miner

Variants studied for dihydropyrimidine dehydrogenase deficiency

Included ClinVar conditions (1):
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 not provided total
23 145 117 14 12 2 282

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DPYD 23 143 112 14 12 2 275
DPYD, LOC129930998 0 2 5 0 0 0 7

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 15 90 4 0 0 0 109
Illumina Laboratory Services, Illumina 1 0 83 6 8 0 98
Counsyl 1 53 20 5 0 0 79
Genome-Nilou Lab 1 17 27 6 4 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 23 0 0 0 0 31
Fulgent Genetics, Fulgent Genetics 3 5 9 0 1 0 18
Revvity Omics, Revvity 2 3 3 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 3 0 0 0 8
OMIM 5 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Mendelics 0 0 0 1 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Department of Genetics, Suzhou Beikang Medical Laboratory 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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