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
99 83 218 209 32 9 557

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cobalamin C disease 97 80 140 197 10 3 459
Disorders of Intracellular Cobalamin Metabolism 1 1 68 5 15 6 94
not provided 20 5 32 16 21 0 90
Methylmalonic acidemia with homocystinuria cblC 18 1 7 13 3 0 42
Inborn genetic diseases 3 0 30 1 0 0 34
not specified 2 0 14 9 6 0 30
MMACHC-related disorder 7 0 2 9 0 0 18
See cases 1 0 3 0 0 0 4
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
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 1
Atypical hemolytic-uremic syndrome 1 0 0 0 0 0 1
Benign concentric annular macular dystrophy; Cobalamin C disease 0 1 0 0 0 0 1
Homocystinuria; Methylmalonic aciduria 1 0 0 0 0 0 1
Methylmalonic aciduria and homocystinuria 1 0 0 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 1 0 0 0 0 0 1
Methylmalonic aciduria, type cblc 0 0 1 0 0 0 1
Retinal dystrophy 0 1 0 0 0 0 1
cblC type of combined methylmalonic aciduria and homocystinuria 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 84 18 70 191 8 0 371
Fulgent Genetics, Fulgent Genetics 24 20 55 16 0 0 115
Genome-Nilou Lab 24 22 39 17 6 0 108
Illumina Laboratory Services, Illumina 2 1 68 5 15 0 91
Baylor Genetics 43 22 11 0 0 0 76
Natera, Inc. 25 2 20 23 5 0 75
GeneDx 16 4 18 15 15 0 68
Counsyl 14 20 29 0 0 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 4 14 3 4 0 51
Ambry Genetics 3 0 30 1 0 0 34
Revvity Omics, Revvity 8 7 9 1 0 0 25
PreventionGenetics, part of Exact Sciences 7 0 2 10 2 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 3 7 11 0 21
Mayo Clinic Laboratories, Mayo Clinic 5 2 10 0 0 0 17
OMIM 10 0 0 0 0 0 10
Eurofins Ntd Llc (ga) 6 0 2 0 2 0 10
CeGaT Center for Human Genetics Tuebingen 4 0 3 3 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 4 0 5 1 0 0 10
Clinical Genetics, Academic Medical Center 1 0 2 1 3 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 3 0 0 0 7
Myriad Genetics, Inc. 1 5 1 0 0 0 7
GeneReviews 0 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 3 0 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 3 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 0 1 1 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 1 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 2 0 1 0 5
Neurology Department, Peking University First Hospital 4 0 1 0 0 0 5
Elsea Laboratory, Baylor College of Medicine 2 0 2 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 1 0 1 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 1 0 0 4
3billion 3 0 1 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Mendelics 2 0 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 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
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 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 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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