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
84 85 126 54 31 1 2 309

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 74 76 89 14 19 0 1 222
not provided 37 18 51 32 11 0 1 139
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 9 55 33 2 1 0 0 100
Invitae 41 8 17 27 5 0 0 98
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 32 14 27 0 18 0 0 90
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 21 11 1 0 0 35
Quest Diagnostics Nichols Institute San Juan Capistrano 9 4 6 1 3 0 0 23
Integrated Genetics/Laboratory Corporation of America 9 4 3 1 2 0 0 19
OMIM 14 0 0 0 0 1 0 15
PreventionGenetics,PreventionGenetics 0 0 0 2 10 0 0 12
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 0 6
Natera Inc 4 0 0 1 1 0 0 6
Mendelics 3 1 0 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 0 2
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
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health: 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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