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
137 56 90 49 23 26 340

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 118 45 43 4 8 0 203
not provided 30 11 24 29 12 26 127
Methylmalonic acidemia 18 1 33 5 4 0 61
not specified 0 2 1 17 9 0 29
METHYLMALONIC ACIDURIA, mut(0) TYPE 13 0 0 0 0 0 13
METHYLMALONIC ACIDURIA, mut(-) TYPE 3 0 0 0 0 0 3
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 38 37 18 1 0 0 94
Invitae 33 4 15 28 7 0 87
GeneDx 21 10 5 17 8 0 61
Illumina Clinical Services Laboratory,Illumina 2 0 35 5 4 0 46
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
Integrated Genetics/Laboratory Corporation of America 18 1 0 0 2 0 21
OMIM 14 0 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 2 0 5 0 10
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 3 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 3 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 1 0 0 0 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1

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