ClinVar Miner

Variants studied for Methylmalonic acidemia with homocystinuria

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
55 38 58 24 5 3 158

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MMACHC 54 38 57 24 5 3 156
DCDC2C 0 0 1 0 0 0 1
HCFC1 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
Invitae 37 4 23 24 4 0 92
Counsyl 20 24 31 1 0 0 76
Baylor Genetics 24 6 0 0 0 0 30
Integrated Genetics/Laboratory Corporation of America 21 2 0 0 0 0 23
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
Mendelics 2 0 1 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
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
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
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
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

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