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
111 115 215 34 32 4 441

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADM 64 68 84 13 16 1 205
ACADS 16 37 75 10 7 3 124
ETFDH 13 10 29 4 4 0 57
ETFA 6 0 19 4 2 0 30
ETFB 3 0 8 2 3 0 15
FLAD1 8 0 0 1 0 0 9
ACADM, ASB17, LOC101927342, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 8 85 67 2 1 0 163
Invitae 40 12 64 4 12 0 132
Illumina Clinical Services Laboratory,Illumina 6 3 66 25 10 0 110
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 31 7 25 0 14 0 77
OMIM 44 0 0 0 0 0 44
Fulgent Genetics 7 7 1 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 9 4 0 0 0 0 13
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University 8 0 0 1 0 0 9
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
GeneReviews 1 2 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory,M Health: 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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