ClinVar Miner

Variants studied for Cobalamin C disease

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 not provided total
132 105 159 216 11 3 548

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MMACHC 96 80 140 197 10 3 459
LOC129930446, MMACHC 24 13 17 19 0 0 62
ABCD4 2 6 0 0 0 0 8
LMBRD1 3 3 0 0 0 0 6
MMADHC 3 2 0 0 0 0 5
MMACHC, PRDX1 3 0 1 0 0 0 4
DCDC2C 0 0 1 0 0 0 1
HCFC1 1 0 0 0 0 0 1
LOC126806368, MMADHC 0 1 0 0 0 0 1
PRDX1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 109 18 80 209 8 0 424
Fulgent Genetics, Fulgent Genetics 34 21 63 20 0 0 138
Genome-Nilou Lab 32 24 47 20 7 0 130
Baylor Genetics 56 30 11 0 0 0 97
Counsyl 20 23 30 1 0 0 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 40 18 0 0 0 0 58
Natera, Inc. 9 1 18 12 2 0 42
Revvity Omics, Revvity 8 8 10 1 0 0 27
OMIM 10 0 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 4 0 5 1 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 3 0 0 0 8
Myriad Genetics, Inc. 1 6 1 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 6 0 1 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 6
3billion 4 1 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 1 0 0 0 5
Elsea Laboratory, Baylor College of Medicine 2 0 2 0 0 0 4
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Mendelics 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 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
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 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
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 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
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
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
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 1 0 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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 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
Clinical Genomics Laboratory, 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
Suma Genomics 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1

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