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
96 74 188 202 32 9 519

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cobalamin C disease 94 72 110 190 10 3 424
Disorders of Intracellular Cobalamin Metabolism 1 1 71 5 15 6 97
not provided 17 3 28 12 14 0 72
Methylmalonic acidemia with homocystinuria cblC 18 1 7 13 3 0 42
not specified 2 0 12 8 6 0 26
Inborn genetic diseases 2 0 18 0 0 0 20
MMACHC-related condition 4 0 1 8 0 0 13
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, 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: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 18 69 186 8 0 363
Genome-Nilou Lab 24 22 39 17 6 0 108
Illumina Laboratory Services, Illumina 2 1 71 5 15 0 94
Natera, Inc. 25 2 20 23 5 0 75
Baylor Genetics 43 20 9 0 0 0 72
Counsyl 14 20 29 0 0 0 63
GeneDx 14 2 16 15 15 0 62
Fulgent Genetics, Fulgent Genetics 14 6 22 13 0 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 4 13 1 4 0 46
Revvity Omics, Revvity 8 7 9 1 0 0 25
Ambry Genetics 2 0 18 0 0 0 20
PreventionGenetics, part of Exact Sciences 4 0 1 9 2 0 16
Mayo Clinic Laboratories, Mayo Clinic 2 2 8 0 0 0 12
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 2 0 0 9
Clinical Genetics, Academic Medical Center 1 0 2 1 3 0 7
Myriad Genetics, Inc. 1 5 1 0 0 0 7
GeneReviews 0 0 0 0 0 6 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 3 0 2 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 3 0 0 0 6
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 0 0 1 0 4
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 1 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
3billion 2 0 1 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 1 0 0 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
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 Inc 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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
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
Daryl Scott Lab, Baylor College of Medicine 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
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
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 Program, Stanford Medicine 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1

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