ClinVar Miner

Variants in gene MMUT

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
178 100 151 99 27 26 512

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 119 78 108 20 17 0 317
not provided 104 26 48 68 6 26 270
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 21 1 13 3 12 0 50
Methylmalonic acidemia 37 2 2 2 1 0 44
not specified 0 2 1 17 9 0 29
METHYLMALONIC ACIDURIA, mut(0) TYPE 13 0 0 0 0 0 13
none provided 1 1 0 0 5 0 7
METHYLMALONIC ACIDURIA, mut(-) TYPE 3 0 0 0 0 0 3
Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorder 8B 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 91 15 43 78 7 0 234
Counsyl 38 37 18 1 0 0 94
Illumina Clinical Services Laboratory,Illumina 2 0 63 6 8 0 79
GeneDx 21 10 5 17 8 0 61
Natera, Inc. 21 1 13 3 12 0 50
Integrated Genetics/Laboratory Corporation of America 37 2 0 0 3 0 42
University Children's Hospital, University of Zurich 41 0 0 0 0 0 41
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 12 2 9 1 9 0 33
GeneReviews 26 0 0 0 5 0 31
Medical Genetics Unit, Ain Shams University Pediatrics Hospital 0 0 0 0 0 26 26
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 16 0 0 0 0 16
Myriad Women's Health, Inc. 0 15 0 0 0 0 15
OMIM 14 0 0 0 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 9 0 3 1 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 3 2 0 5 0 12
PreventionGenetics, PreventionGenetics 0 0 0 1 6 0 7
Mendelics 3 1 2 1 0 0 7
Fulgent Genetics,Fulgent Genetics 5 0 2 0 0 0 7
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 6 0 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 3 0 5
Elsea Laboratory,Baylor College of Medicine 2 0 3 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 1 1 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.