Variants studied for Ornithine aminotransferase 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
94	79	182	271	24	588

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
OAT	83	71	174	240	23	533
LOC121815974, OAT	10	8	8	31	1	54
RIMS1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	71	17	138	268	14	508
Natera, Inc.	9	2	28	13	3	55
Baylor Genetics	18	32	1	0	0	51
Illumina Laboratory Services, Illumina	1	0	38	2	9	50
OMIM	34	0	0	0	2	36
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	33	0	0	0	33
Fulgent Genetics, Fulgent Genetics	2	3	5	1	1	12
Genome-Nilou Lab	1	0	1	0	5	7
Revvity Omics, Revvity	1	2	1	0	0	4
Counsyl	2	0	0	0	1	3
Sharon lab, Hadassah-Hebrew University Medical Center	2	1	0	0	0	3
Molecular Genetics Laboratory, Institute for Ophthalmic Research	2	0	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	1	1	0	0	0	2
DBGen Ocular Genomics	1	0	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	0	0	0	1

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