ClinVar Miner

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

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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
65 68 84 13 16 1 206

Gene and significance breakdown #

Total genes and gene combinations: 2
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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
ACADM, ASB17, LOC101927342, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 7 53 34 2 1 0 97
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 31 7 25 0 14 0 77
Invitae 31 7 12 0 5 0 55
Illumina Clinical Services Laboratory,Illumina 2 0 21 11 1 0 35
OMIM 14 0 0 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 9 4 0 0 0 0 13
Fulgent Genetics 3 3 1 0 0 0 7
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 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: 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

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