ClinVar Miner

Variants in gene DNM1L

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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
38 41 298 360 76 773

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 22 18 260 339 74 697
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 17 15 12 2 4 47
not specified 0 1 5 22 13 41
Inborn genetic diseases 1 1 27 3 0 32
DNM1L-related disorder 1 2 2 9 1 15
Lethal Encephalopathy 0 0 5 7 0 12
Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2 2 2 2 0 8
Optic atrophy 5 3 0 0 0 4 7
Mitochondrial disease 0 4 0 0 0 4
See cases 0 0 2 0 0 2
DNM1L-related movement disorder 0 1 0 0 0 1
Encephalopathy due to mitochondrial and peroxisomal fission defect 1 0 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 1
Obesity 0 1 0 0 0 1
Retinal dystrophy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 18 9 214 285 22 548
GeneDx 8 5 56 63 63 195
Breakthrough Genomics, Breakthrough Genomics 0 0 4 11 21 36
Ambry Genetics 1 1 27 3 0 32
CeGaT Center for Human Genetics Tuebingen 0 2 7 13 1 23
PreventionGenetics, part of Exact Sciences 1 0 2 10 8 21
Illumina Laboratory Services, Illumina 0 0 5 7 0 12
OMIM 11 0 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 2 6 10
Baylor Genetics 3 2 2 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 2 0 7
Mendelics 2 1 2 2 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 0 3 6
Revvity Omics, Revvity 0 1 4 0 0 5
Fulgent Genetics, Fulgent Genetics 0 1 1 2 0 4
Wellcome Centre for Mitochondrial Research, Newcastle University 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
3billion 2 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 2 0 0 0 2
Tovana Health 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Dash Lab, University Health Network 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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