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
24 123 117 14 12 2 261

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 24 121 112 14 12 2 254
DPYD, LOC129930998 0 2 5 0 0 0 7

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 83 6 8 0 98
Baylor Genetics 16 69 4 0 0 0 89
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 7 22 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 3 5 9 0 1 0 18
Revvity Omics, Revvity Omics 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
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
Elsea Laboratory, Baylor College of Medicine 0 0 1 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
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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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