Variants studied for orotic aciduria

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
4	1	117	20	49	190

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
UMPS	4	1	117	20	49	190

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	114	20	49	183
Genome-Nilou Lab	0	0	0	0	3	3
OMIM	2	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
3billion	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	1

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