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
276 180 243 396 51 57 1046

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 220 72 144 379 45 26 867
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 119 108 120 24 14 31 368
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 44 5 34 7 13 0 103
Methylmalonic acidemia 52 8 2 2 1 0 65
not specified 0 2 7 16 10 0 35
MMUT-related condition 2 2 1 8 1 0 14
METHYLMALONIC ACIDURIA, mut(0) TYPE 13 0 0 0 0 0 13
Inborn genetic diseases 0 0 8 0 0 0 8
Abnormality of metabolism/homeostasis 2 1 0 0 0 0 3
METHYLMALONIC ACIDURIA, mut(-) TYPE 3 0 0 0 0 0 3
See cases 2 0 0 0 0 0 2
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 1 0 0 0 0 1
Neonatal encephalopathy 1 0 0 0 0 0 1
Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 213 58 124 350 23 0 768
GeneDx 32 11 9 43 31 0 126
Natera, Inc. 44 5 34 7 13 0 103
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 63 6 8 0 81
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 9 7 0 3 0 71
University Children's Hospital, University of Zurich 41 0 0 0 0 0 41
Eurofins Ntd Llc (ga) 12 2 9 1 9 0 33
GeneReviews 0 0 0 0 0 31 31
Myriad Genetics, Inc. 0 27 1 0 0 0 28
Medical Genetics Unit, Ain Shams University Pediatrics Hospital 0 0 0 0 0 26 26
Revvity Omics, Revvity 15 3 4 0 0 0 22
PreventionGenetics, part of Exact Sciences 2 2 1 9 7 0 21
CeGaT Center for Human Genetics Tuebingen 14 1 2 2 0 0 19
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 16 0 0 0 0 16
OMIM 14 0 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 3 3 0 5 0 13
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
Ambry Genetics 0 0 8 0 0 0 8
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Clinical Genetics, Academic Medical Center 0 0 1 1 4 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 3 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, Mass General Brigham 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 3 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 3 0 0 0 4
3billion 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 0 0 0 0 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 2 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 0 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
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 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
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 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
Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1

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