ClinVar Miner

Variants studied for Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
136 50 162 411 38 3 742

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTHFR 136 50 161 411 38 3 741
C1orf167, MTHFR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 23 133 401 35 0 674
Natera, Inc. 10 6 22 22 9 0 69
University Children's Hospital, University of Zurich 48 0 0 0 0 0 48
Revvity Omics, Revvity 3 5 10 0 0 0 18
OMIM 10 0 0 0 0 0 10
Genome-Nilou Lab 0 1 0 1 7 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
3billion 1 3 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 3 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 1 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Neurology Department, Peking University First Hospital 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 0 1 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1

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