ClinVar Miner

Variants in gene ACADM

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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
122 108 166 82 33 1 2 413

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Medium-chain acyl-coenzyme A dehydrogenase deficiency 115 99 132 64 24 0 1 358
not provided 37 18 50 15 9 0 1 121
not specified 0 1 2 13 12 0 0 28
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 89 30 47 61 5 0 0 232
Counsyl 7 53 33 2 1 0 0 96
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 32 14 27 0 20 0 0 92
GeneDx 20 10 9 16 13 0 0 68
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 20 3 31 0 6 0 0 60
Illumina Clinical Services Laboratory,Illumina 2 0 34 7 10 0 0 53
Natera, Inc. 5 3 26 7 4 0 0 45
Integrated Genetics/Laboratory Corporation of America 16 3 3 2 3 0 0 27
Quest Diagnostics Nichols Institute San Juan Capistrano 9 4 6 1 4 0 0 24
OMIM 14 0 0 0 0 1 0 15
PreventionGenetics, PreventionGenetics 0 0 0 2 10 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 4 1 0 0 0 8
Fulgent Genetics,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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 1 0 0 5
Mendelics 3 1 0 0 0 0 0 4
Myriad Women's Health, Inc. 3 1 0 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 3 0 0 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1

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