ClinVar Miner

Variants studied for Deficiency of acetyl-CoA acetyltransferase

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
144 108 146 316 35 673

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACAT1 142 108 145 316 35 670
ACAT1, ACAT2 1 0 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 1
ACAT1, LOC129390351 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 107 28 67 310 16 528
Department of Pediatrics, Gifu University 44 44 18 0 0 106
Illumina Laboratory Services, Illumina 0 0 44 3 18 65
Baylor Genetics 16 47 0 0 0 63
Natera, Inc. 7 3 29 8 10 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 9 0 0 0 20
Fulgent Genetics, Fulgent Genetics 4 7 2 2 2 17
OMIM 16 0 0 0 0 16
Genome-Nilou Lab 0 0 3 0 10 13
Revvity Omics, Revvity 2 2 4 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 1 3 6
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 2 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 3
3billion 1 0 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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