ClinVar Miner

Variants in gene MTR

Minimum submission review status: Collection method:
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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
13 3 134 80 45 1 1 251

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
Disorders of Intracellular Cobalamin Metabolism 1 0 122 30 27 0 0 180
not specified 0 0 1 50 22 0 0 73
METHYLCOBALAMIN DEFICIENCY, cblG TYPE 11 0 7 2 10 0 0 29
not provided 3 3 8 1 1 0 0 15
Gastrointestinal stroma 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, cblG TYPE; 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: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 122 30 27 0 0 180
GeneDx 0 3 7 50 22 0 0 82
Invitae 2 0 7 2 10 0 0 21
OMIM 10 0 0 0 0 1 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 1 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 1 0 0 4
Ambry Genetics 1 0 0 0 0 0 0 1
PreventionGenetics 0 0 0 0 1 0 0 1
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

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