Variants studied for 5-oxoprolinase 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
21	16	140	168	54	384

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OPLAH	21	16	139	167	54	382
intergenic	0	0	1	0	0	1
MIR6846, OPLAH	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	16	2	133	157	54	362
Fulgent Genetics, Fulgent Genetics	2	7	25	24	3	61
Revvity Omics, Revvity	0	4	1	0	0	5
OMIM	3	0	0	0	0	3
Baylor Genetics	0	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Molecular Genetics Laboratory, Motol Hospital	2	0	0	0	0	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	1

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