ClinVar Miner

Variants in gene OXCT1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 12 114 75 45 234

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Succinyl-CoA acetoacetate transferase deficiency 15 10 82 67 30 185
not provided 1 1 13 6 24 42
Inborn genetic diseases 0 0 28 1 0 29
OXCT1-related disorder 0 2 0 10 3 15
not specified 0 0 1 1 4 6

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 32 55 23 114
Illumina Laboratory Services, Illumina 0 1 41 11 10 63
Ambry Genetics 0 0 28 1 0 29
GeneDx 0 0 2 1 20 23
PreventionGenetics, part of Exact Sciences 0 2 0 10 4 16
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 11 12
Eurofins Ntd Llc (ga) 0 0 7 0 4 11
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 5 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 2 2 6
CeGaT Center for Human Genetics Tuebingen 1 0 0 4 0 5
Mendelics 1 1 0 0 1 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 2
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 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
3billion 1 0 1 0 0 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1

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