ClinVar Miner

Variants studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency

Coded as:
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
98 85 125 28 22 1 296

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADM 97 85 125 28 22 1 295
ACADM, ASB17, LOC101927342, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 69 17 47 18 5 0 156
Counsyl 7 53 33 2 1 0 96
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 32 11 25 0 18 0 86
Illumina Clinical Services Laboratory,Illumina 2 0 34 7 10 0 53
Integrated Genetics/Laboratory Corporation of America 14 3 0 0 0 0 17
OMIM 14 0 0 0 0 0 14
Fulgent Genetics,Fulgent Genetics 3 3 1 0 0 0 7
Natera Inc 4 0 0 1 1 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 0 4
Mendelics 3 1 0 0 0 0 4
Myriad Women's Health, Inc. 3 1 0 0 0 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 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.