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
17	7	142	126	54	331

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	total
OPLAH	17	7	142	125	54	330
MIR6846, OPLAH	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	13	0	136	114	54	317
Fulgent Genetics, Fulgent Genetics	2	2	24	24	3	55
Revvity Omics, Revvity	0	4	1	0	0	5
OMIM	3	0	0	0	0	3
Baylor Genetics	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	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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