Variants studied for Succinyl-CoA acetoacetate transferase 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
15	10	83	71	33	192

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
OXCT1	15	10	81	67	30	183
LOC121725203, OXCT1	0	0	2	4	3	9

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	3	1	34	58	26	122
Illumina Laboratory Services, Illumina	0	1	42	11	10	64
Revvity Omics, Revvity	0	4	5	0	0	9
OMIM	7	0	0	0	0	7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	2	4	6
Mendelics	1	1	0	0	1	3
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	3
Fulgent Genetics, Fulgent Genetics	0	1	0	0	1	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	1	0	0	0	2
Istanbul Faculty of Medicine, Istanbul University	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Baylor Genetics	0	1	0	0	0	1
Elsea Laboratory, Baylor College of Medicine	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Pediatric Metabolic Diseases, Hacettepe University	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	1	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	1	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	1

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