ClinVar Miner

Variants in gene MTM1

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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 not provided total
208 95 185 297 82 2 784

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Severe X-linked myotubular myopathy 180 75 128 265 66 2 675
not provided 49 16 42 26 17 0 146
Inborn genetic diseases 0 2 30 1 1 0 34
not specified 0 2 10 10 13 0 33
Centronuclear myopathy 11 2 3 0 4 0 19
MTM1-related disorder 4 0 3 2 1 0 10
Autosomal dominant centronuclear myopathy 0 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 0 0 0 1
Generalized hypotonia 1 0 0 0 0 0 1
Myopathy; Abnormality of metabolism/homeostasis; Abnormality of the respiratory system; Central core regions in muscle fibers 1 0 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Qualitative or quantitative defects of myotubularin 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Spastic paraplegia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 68 18 116 248 65 0 515
Genetic Services Laboratory, University of Chicago 122 20 9 2 7 0 160
GeneDx 22 9 13 29 19 0 92
Natera, Inc. 1 0 13 22 5 0 41
Ambry Genetics 0 2 30 1 1 0 34
Eurofins Ntd Llc (ga) 14 0 9 0 4 0 27
Myriad Genetics, Inc. 0 23 0 0 0 0 23
Revvity Omics, Revvity 6 2 14 0 0 0 22
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 6 3 2 0 4 0 15
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 12 0 2 0 0 0 14
PreventionGenetics, part of Exact Sciences 3 0 3 2 4 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 5 0 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 7 0 11
OMIM 10 0 0 0 0 0 10
Baylor Genetics 6 4 0 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 2 0 5 2 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
3billion 5 0 0 0 0 0 5
Athena Diagnostics 2 0 1 0 1 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 2 0 1 0 4
MGZ Medical Genetics Center 0 2 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 4 0 0 0 0 0 4
Mendelics 2 0 0 0 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
GeneReviews 0 0 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Suma Genomics 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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