Variants studied for Dihydropyrimidine dehydrogenase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	145	114	14	12	2	281

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	143	109	14	12	2	274
DPYD, LOC129930998	0	2	5	0	0	0	7

Submitter and significance breakdown #

Total submitters: 29

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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	78	6	8	0	93
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	9	23	0	0	0	0	32
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
Department of Pathology and Laboratory Medicine, Sinai Health System	1	1	1	0	0	0	3
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	2	0	0	0	0	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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