ClinVar Miner

Variants in gene MMACHC

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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
40 29 99 16 13 3 180

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic acidemia with homocystinuria 35 27 43 2 3 3 102
Disorders of Intracellular Cobalamin Metabolism 1 1 48 6 8 0 64
not provided 19 1 14 0 2 0 36
not specified 2 0 2 10 5 0 19
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 3 0 0 0 0 0 3
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 0 0 0 0 0 2
Bull's eye maculopathy; Methylmalonic acidemia with homocystinuria 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 20 24 31 1 0 0 76
Illumina Clinical Services Laboratory,Illumina 1 1 48 6 8 0 64
Invitae 20 1 11 1 3 0 36
GeneDx 14 1 4 9 3 0 31
Integrated Genetics/Laboratory Corporation of America 15 2 4 0 2 0 23
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 0 5 0 2 0 16
OMIM 12 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 0 0 2 0 6
Fulgent Genetics,Fulgent Genetics 4 0 1 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 0 2 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 0 1 0 4
PreventionGenetics 0 0 0 1 2 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 2 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1

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