ClinVar Miner

Variants in gene MTHFD1

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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 risk factor not provided total
15 22 185 239 21 2 1 467

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 9 10 153 237 20 0 1 424
Inborn genetic diseases 0 0 26 0 0 0 0 26
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 9 5 6 0 3 0 0 19
MTHFD1-related disorder 0 0 3 10 0 0 0 13
Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 8 5 0 0 0 0 13
not specified 0 0 4 1 3 0 0 7
Severe combined immunodeficiency disease 1 3 0 0 0 0 0 4
Neural tube defects, folate-sensitive, susceptibility to 0 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 0 1
Spina bifida, folate-sensitive, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 9 149 231 19 0 0 416
Ambry Genetics 0 0 26 0 0 0 0 26
PreventionGenetics, part of Exact Sciences 0 0 3 10 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 8 4 0 0 0 0 12
OMIM 9 0 0 0 0 2 0 11
CeGaT Center for Human Genetics Tuebingen 0 0 2 8 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 3 1 1 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 4 0 0 9
SIB Swiss Institute of Bioinformatics 1 4 0 0 0 0 0 5
GeneDx 1 1 0 0 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1

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