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
130 135 244 33 33 4 495

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 74 76 89 14 19 1 222
ACADS 16 37 86 10 7 3 131
ETFDH 19 20 38 3 2 0 79
ETFA 8 1 22 3 3 0 36
ETFB 3 1 9 2 2 0 16
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 12 88 69 2 1 0 172
Invitae 56 21 91 1 3 0 172
Illumina Clinical Services Laboratory,Illumina 6 3 66 25 10 0 110
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 32 11 25 0 22 0 90
OMIM 44 0 0 0 0 0 44
Mendelics 7 5 1 1 2 0 16
Fulgent Genetics,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
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
Natera Inc 4 0 0 1 1 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 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
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
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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