ClinVar Miner

Variants in gene MTHFR

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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 drug response risk factor other not provided total
141 95 209 448 57 1 2 3 5 839

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 136 49 161 411 38 0 0 0 3 740
not provided 4 10 36 22 24 0 0 3 1 91
Neural tube defects, folate-sensitive 28 47 7 1 1 0 0 0 0 83
Inborn genetic diseases 0 0 15 32 0 0 0 0 0 47
MTHFR-related condition 0 0 2 24 4 0 0 0 0 30
not specified 0 0 5 3 14 0 0 0 0 21
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 2 5 6 4 0 0 0 0 0 17
Intellectual disability 0 0 0 4 0 0 0 0 0 4
See cases 1 1 2 0 0 0 0 0 0 4
Gastrointestinal stromal tumor 0 0 2 0 0 0 0 0 0 2
MTHFR THERMOLABILE POLYMORPHISM 1 0 0 0 2 0 0 0 0 2
Mendelian syndromes with cleft lip/palate 0 1 1 0 0 0 0 0 0 2
Thrombophilia due to thrombin defect 0 0 2 0 0 0 0 0 0 2
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 0 0 0 1
Generalized cerebral atrophy/hypoplasia 0 1 0 0 0 0 0 0 0 1
Global developmental delay; Delayed speech and language development; Mental deterioration; Lower limb spasticity; Bilateral tonic-clonic seizure 1 0 0 0 0 0 0 0 0 1
Global developmental delay; Spasticity; Bilateral tonic-clonic seizure; Secondary microcephaly; Infantile spasms 1 0 0 0 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 0 0 1
Neoplasm of stomach 0 0 0 0 0 0 0 0 1 1
Neural tube defect 0 0 0 0 0 0 1 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 0 0 0 1
Schizophrenia 0 1 0 0 0 0 0 0 0 1
Schizophrenia, susceptibility to 0 0 0 0 0 0 1 0 0 1
Stroke disorder 0 0 1 0 0 0 0 0 0 1
Vascular dementia 0 0 1 0 0 0 0 0 0 1
methotrexate response - Toxicity 0 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Invitae 82 23 133 401 35 0 0 0 0 674
Baylor Genetics 28 47 1 0 0 0 0 0 0 76
Natera, Inc. 10 6 22 22 9 0 0 0 0 69
GeneDx 1 8 8 10 28 0 0 0 0 55
University Children's Hospital, University of Zurich 48 0 0 0 0 0 0 0 0 48
Ambry Genetics 0 0 15 32 0 0 0 0 0 47
Eurofins Ntd Llc (ga) 0 0 22 1 5 0 0 3 0 31
PreventionGenetics, part of Exact Sciences 0 0 2 24 4 0 0 0 0 30
CeGaT Center for Human Genetics Tuebingen 2 1 9 9 1 0 0 0 0 22
Revvity Omics, Revvity 3 5 10 0 0 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 2 5 6 4 0 0 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 4 7 0 0 0 0 13
OMIM 10 0 0 0 2 0 1 0 0 12
Clinical Genetics, Academic Medical Center 0 0 1 1 8 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 3 1 1 0 0 0 0 10
Illumina Laboratory Services, Illumina 1 1 8 0 0 0 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 8 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 1 4 0 0 0 0 9
Genome-Nilou Lab 0 1 0 1 7 0 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 3 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 0 0 0 6
3billion 1 3 1 0 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 0 0 0 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 4 0 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 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 2 0 0 0 0 0 0 4
Mendelics 1 0 0 1 1 0 0 0 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 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 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 0 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 0 0 0 2
Department of Pharmacy and Biotechnology, University of Bologna 0 0 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 0 0 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 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 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1 0 0 0 0 2
Faculty of Pharmacy, University of Ljubljana 0 1 1 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 0 0 1 1
Neurology Department, Peking University First Hospital 0 0 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 0 0 1
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini 0 0 0 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 0 1 1
Myriad Genetics, Inc. 1 0 0 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 0 0 0 1
Nutriplexity 0 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 0 0 1
iDNA Genomics 0 0 0 1 0 0 0 0 0 1

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