ClinVar Miner

Variants studied for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (6):
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 not provided total
171 154 423 85 56 4 781

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADM 96 86 131 29 22 1 302
ETFDH 33 25 102 28 10 0 183
ACADS 16 38 129 5 14 3 178
ETFA 12 3 49 14 5 0 78
ETFB 4 2 12 8 5 0 29
FLAD1 9 0 0 1 0 0 10
ACADM, ASB17, LOC101927342, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 105 39 180 61 17 0 402
Illumina Clinical Services Laboratory,Illumina 6 3 127 15 35 0 186
Counsyl 9 86 69 2 1 0 167
Natera, Inc. 12 5 76 11 5 0 109
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 32 11 25 0 22 0 90
OMIM 44 0 0 0 0 0 44
Integrated Genetics/Laboratory Corporation of America 15 3 0 0 0 0 18
Mendelics 7 5 1 1 2 0 16
Fulgent Genetics,Fulgent Genetics 7 7 1 0 0 0 15
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University 8 0 0 1 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 3 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 0 5
Myriad Women's Health, Inc. 4 1 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
GeneReviews 1 2 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 3 0 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 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.