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
65 43 64 73 7 3 225

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 not provided total
MMACHC 64 42 63 73 7 3 222
DCDC2C 0 0 1 0 0 0 1
HCFC1 1 0 0 0 0 0 1
MMADHC 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 49 5 27 73 6 0 160
Counsyl 20 24 31 1 0 0 76
Baylor Genetics 25 6 3 0 0 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 3 0 0 0 0 25
OMIM 10 0 0 0 0 0 10
Neurology Department,Peking University First Hospital 6 0 1 0 0 0 7
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
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
Mendelics 2 0 1 0 0 0 3
Nilou-Genome Lab 1 0 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 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
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
Myriad Women's Health, Inc. 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Natera, Inc. 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 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
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
Pars Genome Lab 0 0 1 0 0 0 1

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