ClinVar Miner

Variants in gene ACADM

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 risk factor not provided total
75 80 121 27 24 1 2 264

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Medium-chain acyl-coenzyme A dehydrogenase deficiency 66 69 84 13 16 0 1 207
not provided 32 15 48 1 4 0 1 95
not specified 0 1 3 13 12 0 0 29
Hydrocephalus, congenital, 2, with or without brain or eye anomalies 0 1 0 0 0 0 0 1
MCAD deficiency, modifier of 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 7 53 34 2 1 0 0 97
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 31 10 27 0 16 0 0 83
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 20 3 31 0 6 0 0 60
GeneDx 20 10 9 12 6 0 0 57
Invitae 30 7 12 0 5 0 0 54
Illumina Clinical Services Laboratory,Illumina 2 0 21 11 1 0 0 35
Integrated Genetics/Laboratory Corporation of America 9 4 3 1 2 0 0 19
Quest Diagnostics Nichols Institute San Juan Capistrano 5 2 5 1 3 0 0 16
OMIM 14 0 0 0 0 1 0 15
PreventionGenetics 0 0 0 2 10 0 0 12
Fulgent Genetics 3 3 1 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 7 0 0 0 0 0 0 7
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 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.