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 total
123 80 112 8 17 322

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MMUT 120 80 111 8 17 318
MMACHC 2 0 0 0 0 2
MAN2B1 1 0 0 0 0 1
PEX16 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 38 37 18 1 0 94
Illumina Clinical Services Laboratory,Illumina 2 0 61 4 7 74
Invitae 16 3 23 0 0 42
University Children's Hospital, University of Zurich 41 0 0 0 0 41
GeneReviews 26 0 0 0 5 31
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 16 0 0 0 16
Myriad Women's Health, Inc. 0 15 0 0 0 15
Fulgent Genetics,Fulgent Genetics 6 1 2 0 0 9
Pars Genome Lab 0 0 0 0 9 9
Mendelics 3 1 2 1 0 7
Nilou-Genome Lab 1 0 4 1 1 7
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 6 0 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 1 1 0 0 6
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 6 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 5
Elsea Laboratory,Baylor College of Medicine 2 0 3 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 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 1
Suma Genomics 0 1 0 0 0 1

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