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)

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
24	22	151	196	55	430

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OPLAH	24	22	150	195	55	428
intergenic	0	0	1	0	0	1
MIR6846, OPLAH	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 18

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	18	3	138	185	55	399
Fulgent Genetics, Fulgent Genetics	2	7	25	24	3	61
Department of Pathology and Laboratory Medicine, Sinai Health System	0	3	4	0	1	8
Revvity Omics, Revvity	0	5	1	0	0	6
First Genomix Gene Laboratory, Genetic Diagnostics Department	1	3	0	0	0	4
OMIM	3	0	0	0	0	3
Baylor Genetics	0	0	2	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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	2
Molecular Genetics Laboratory, Motol Hospital	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	0	1	1
Stanford Starfish Project, Stanford University	1	0	0	0	0	1
Variantyx, Inc.	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.