ClinVar Miner

Variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Coded as:
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
121 106 121 24 14 31 371

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MMUT 118 106 120 24 14 31 367
MMACHC 2 0 0 0 0 0 2
MAN2B1 1 0 0 0 0 0 1
PEX16 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 29 18 36 17 0 0 100
Counsyl 38 37 18 1 0 0 94
Illumina Laboratory Services, Illumina 3 1 61 4 7 0 76
University Children's Hospital, University of Zurich 41 0 0 0 0 0 41
GeneReviews 0 0 0 0 0 31 31
Myriad Genetics, Inc. 0 27 1 0 0 0 28
Revvity Omics, Revvity Omics 15 3 4 0 0 0 22
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 16 0 0 0 0 16
Mendelics 6 1 2 1 0 0 10
Genome-Nilou Lab 1 0 4 1 3 0 9
Pars Genome Lab 0 0 0 0 9 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 5 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Invitae 4 0 2 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 1 1 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
Elsea Laboratory, Baylor College of Medicine 2 0 3 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 2 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
3billion 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 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.