ClinVar Miner

Variants studied for homocystinuria due to methylene tetrahydrofolate reductase deficiency

Included ClinVar conditions (3):
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
144 71 172 434 38 3 779

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 144 71 171 434 38 3 778
C1orf167, MTHFR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 90 23 126 422 35 0 696
Natera, Inc. 10 6 22 22 9 0 69
University Children's Hospital, University of Zurich 48 0 0 0 0 0 48
Fulgent Genetics, Fulgent Genetics 4 14 6 4 0 0 28
Revvity Omics, Revvity 3 5 10 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 10 0 0 0 0 17
OMIM 10 0 0 0 2 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 7 0 2 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 4 7 0 0 0 12
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
3billion 1 3 2 0 0 0 6
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 1 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
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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 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
FirmaLab, FirmaLab 1 0 0 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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