ClinVar Miner

Variants in gene MTR

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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 risk factor not provided total
59 35 373 658 199 1 1 1256

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Methylcobalamin deficiency type cblG 57 28 197 571 66 0 0 912
Disorders of Intracellular Cobalamin Metabolism 1 0 149 31 69 0 1 250
not provided 6 4 41 46 102 0 0 191
not specified 0 0 0 43 24 0 0 67
Inborn genetic diseases 1 0 29 3 0 0 0 33
MTR-related condition 1 2 0 15 4 0 0 22
Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive 0 0 4 3 0 0 0 7
Intellectual disability 0 0 1 3 0 0 0 4
See cases 0 0 3 0 0 0 0 3
Homocystinuria; Decreased methionine synthase activity 0 2 0 0 0 0 0 2
Epilepsy; Intellectual disability, profound 0 1 0 0 0 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 0 0 1
Neural tube defects, folate-sensitive, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 46 24 191 572 64 0 0 897
Illumina Laboratory Services, Illumina 1 0 149 31 69 0 0 250
GeneDx 1 4 34 68 116 0 0 223
Ambry Genetics 1 0 29 3 0 0 0 33
CeGaT Center for Human Genetics Tuebingen 3 0 5 16 1 0 0 25
PreventionGenetics, part of Exact Sciences 1 2 0 15 5 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 4 8 0 0 15
OMIM 10 0 0 0 0 1 0 11
Clinical Genetics, Academic Medical Center 0 0 0 1 10 0 0 11
Revvity Omics, Revvity 1 1 6 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 0 7
Mendelics 1 2 0 1 1 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 0 4
Eurofins Ntd Llc (ga) 3 0 0 0 1 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 0 0 4
Elsea Laboratory, Baylor College of Medicine 2 0 1 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Department of Pharmacy and Biotechnology, University of Bologna 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 0 1

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