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
128 51 82 28 15 26 299

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 108 40 35 6 11 0 189
not provided 30 13 23 0 2 26 94
Methylmalonic acidemia 18 1 33 5 4 0 61
not specified 0 0 1 17 9 0 27
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 38 36 18 1 0 0 93
GeneDx 21 10 5 15 3 0 54
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
Invitae 15 2 8 3 4 0 32
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
PreventionGenetics 0 0 0 1 6 0 7
Fulgent Genetics 5 0 2 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 2 0 1 0 6
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
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
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 0 2 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1

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