ClinVar Miner

Variants studied for Succinyl-CoA acetoacetate transferase deficiency

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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
16 9 82 60 33 180

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 16 9 80 58 30 173
LOC121725203, OXCT1 0 0 2 2 3 7

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 47 26 111
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
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 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
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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