ClinVar Miner

Variants in gene MTM1

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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 total
163 43 61 69 38 352

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Severe X-linked myotubular myopathy 144 38 46 43 22 285
not provided 29 2 12 22 8 71
not specified 0 2 4 12 11 28
Centronuclear myopathy 1 0 1 0 0 2
Inborn genetic diseases 0 1 0 0 0 1
Myopathy, centronuclear, 1 0 0 1 0 0 1
Myopathy; Abnormality of metabolism/homeostasis; Abnormality of the respiratory system; Central core regions in muscle fibers 1 0 0 0 0 1
Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormality of the cerebral white matter; Abnormality of the nares; Postnatal microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Congenital microcephaly 1 0 0 0 0 1
Spastic paraplegia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 34 11 39 49 22 155
Genetic Services Laboratory, University of Chicago 117 18 8 2 7 152
GeneDx 13 1 1 18 11 44
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 14 0 9 0 4 27
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 12 0 2 0 0 14
OMIM 10 0 0 0 0 10
Myriad Women's Health, Inc. 0 8 0 0 0 8
Natera, Inc. 0 0 1 2 3 6
Baylor Genetics 2 1 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Mendelics 2 0 0 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 3
Athena Diagnostics Inc 1 0 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Ambry Genetics 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1

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