ClinVar Miner

Variants in gene MTHFR

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Minimum submission review status: Collection method:
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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
68 9 67 52 24 1 2 3 4 196

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
not provided 0 3 31 45 17 0 0 3 0 86
Homocysteinemia due to MTHFR deficiency 57 6 12 0 1 0 0 0 3 78
Neural tube defects, folate-sensitive 1 0 25 6 2 0 0 0 0 33
not specified 0 0 3 2 11 0 0 0 0 15
Homocystinuria due to MTHFR deficiency 9 0 0 0 0 0 0 0 0 9
Gastrointestinal stroma tumor 0 0 2 0 0 0 0 0 0 2
MTHFR deficiency, thermolabile type 1 0 0 0 2 0 0 0 0 2
Homocysteinemia due to MTHFR deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Venous thrombosis 0 0 1 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
Schizophrenia, susceptibility to 0 0 0 0 0 0 1 0 0 1
Venous thrombosis 0 0 1 0 0 0 0 0 0 1
carboplatin response - Efficacy 0 0 0 0 0 1 0 0 0 1
cyclophosphamide response - Toxicity/ADR 0 0 0 0 0 1 0 0 0 1
methotrexate response - Dosage, Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Invitae 7 3 12 44 17 0 0 0 0 83
University Children's Hospital, University of Zurich 48 0 0 0 0 0 0 0 0 48
Illumina Clinical Services Laboratory,Illumina 0 0 25 6 1 0 0 0 0 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 22 1 5 0 0 3 0 31
GeneDx 0 3 0 2 8 0 0 0 0 13
OMIM 10 0 0 0 2 0 1 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 0 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 0 3 0 0 0 0 7
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 0 0 0 0 0 0 0 3
Department of Pharmacy and Biotechnology,University of Bologna 0 0 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 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
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 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, Oman 0 0 1 0 0 0 0 0 0 1

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