ClinVar Miner

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

Coded as:
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Gene type:
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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
92 80 109 28 22 1 275

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 91 80 109 28 22 1 274
ACADM, ASB17, LOC101927342, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 12 26 18 5 0 123
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 12 4 0 0 0 0 16
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
Mendelics 3 1 0 0 0 0 4
Myriad Women's Health, Inc. 3 2 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
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
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: 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

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