ClinVar Miner

Variants in gene MTR

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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
22 8 218 95 88 1 1 400

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
Disorders of Intracellular Cobalamin Metabolism 1 0 161 33 72 0 0 267
Methylcobalamin deficiency type cblG 20 4 56 18 20 0 0 115
not specified 0 0 1 50 22 0 0 72
not provided 3 3 8 9 2 0 0 24
none provided 0 0 2 2 5 0 0 9
Intellectual disability 0 0 1 3 0 0 0 4
Homocystinuria; Decreased methionine synthase activity 0 2 0 0 0 0 0 2
Gastrointestinal stromal tumor 0 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
Intellectual disability, profound; Seizure disorder 0 1 0 0 0 0 0 1
Large for gestational age 0 0 0 0 0 0 1 1
Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive 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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 161 33 72 0 0 267
Invitae 6 2 55 24 21 0 0 108
GeneDx 0 3 7 51 22 0 0 83
OMIM 10 0 0 0 0 1 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 2 5 0 0 11
Mendelics 0 2 0 1 1 0 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
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
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
Baylor Genetics 0 0 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 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

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