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
57 48 55 12 5 163

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
ACAT1 56 48 55 12 5 162
ACAT1, ACAT2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Pediatrics, Gifu University 44 44 18 0 0 106
Illumina Clinical Services Laboratory,Illumina 0 0 31 12 4 47
Invitae 6 1 9 0 1 17
OMIM 16 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 4 2 0 0 0 6
Fulgent Genetics,Fulgent Genetics 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,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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1

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