ClinVar Miner

Variants studied for acyl-CoA dehydrogenase 9 deficiency

Included ClinVar conditions (1):
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
35 106 84 30 25 245

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACAD9 29 83 62 23 19 188
ACAD9, CFAP92 6 21 18 6 6 51
ACAD9, LOC126806807 0 2 4 1 0 6

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 11 78 7 0 0 96
Illumina Laboratory Services, Illumina 1 1 49 4 12 67
Natera, Inc. 3 7 15 23 13 61
Fulgent Genetics, Fulgent Genetics 6 31 5 3 0 45
Revvity Omics, Revvity 1 5 11 0 0 17
Genome-Nilou Lab 0 0 1 1 12 14
OMIM 8 0 0 0 0 8
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 8 0 0 0 0 8
MGZ Medical Genetics Center 0 5 2 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Kids Research, The Children's Hospital at Westmead 1 2 0 0 0 3
Mendelics 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.