Variants studied for Dihydropyrimidinase 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	total
13	10	27	6	13	65

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
DPYS	13	10	27	6	13	65

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	3	25	6	13	47
OMIM	7	0	0	0	0	7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	1	1	0	0	4
Revvity Omics, Revvity	1	2	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	3
Juno Genomics, Hangzhou Juno Genomics, Inc	1	2	0	0	0	3
Baylor Genetics	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	2
3billion	0	0	2	0	0	2
Gemeinschaftspraxis fuer Humangenetik Dresden	0	2	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
MGZ Medical Genetics Center	0	1	0	0	0	1
New York Genome Center	0	1	0	0	0	1
DASA	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	0	1
Osteogenesis Imperfecta Clinic, Kennedy Krieger Institute	1	0	0	0	0	1

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