ClinVar Miner

Variants in gene AARS1

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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 not provided total
60 31 748 586 74 4 1382

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2 42 9 596 498 38 0 1183
not provided 2 14 139 83 45 1 264
Inborn genetic diseases 3 1 103 72 0 0 179
Charcot-Marie-Tooth disease axonal type 2N 7 5 56 22 24 1 105
not specified 0 0 8 39 14 0 58
Charcot-Marie-Tooth disease 1 0 31 0 0 0 32
Developmental and epileptic encephalopathy, 29 11 3 15 0 1 0 29
AARS1-related condition 0 0 6 11 2 0 19
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive 0 0 2 6 0 0 8
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29 0 0 2 0 0 2 4
Trichothiodystrophy 8, nonphotosensitive 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease, type I 0 0 2 0 0 0 2
Leukoencephalopathy, hereditary diffuse, with spheroids 2 1 1 0 0 0 0 2
See cases 0 0 2 0 0 0 2
AARS-related disorders 0 1 0 0 0 0 1
Clubfoot; Gait disturbance; Impaired vibration sensation in the lower limbs; Shuffling gait; Distal muscle weakness; EMG: neuropathic changes; Progressive distal muscular atrophy; Foot dorsiflexor weakness 0 0 1 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Hereditary diffuse leukoencephalopathy with spheroids 0 1 0 0 0 0 1
Peripheral neuropathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 9 596 503 38 0 1188
GeneDx 1 9 75 88 45 0 218
Ambry Genetics 3 1 103 72 0 0 179
Illumina Laboratory Services, Illumina 0 0 39 18 24 0 81
CeGaT Center for Human Genetics Tuebingen 1 0 40 23 2 0 66
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 7 9 12 0 29
Molecular Genetics Laboratory, London Health Sciences Centre 1 0 23 0 0 0 24
PreventionGenetics, part of Exact Sciences 0 0 6 11 2 0 19
Revvity Omics, Revvity 0 0 13 2 0 0 15
Clinical Genetics, Academic Medical Center 0 0 3 3 9 0 15
OMIM 13 0 1 0 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 9 0 0 10
Eurofins Ntd Llc (ga) 0 0 6 0 4 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 3 6 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 1 0 8
Genesis Genome Database 0 0 8 0 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 1 0 0 7
Mendelics 3 0 0 1 2 0 6
Simons Lab, The University of Queensland 5 1 0 0 0 0 6
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 6 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 2 0 5
Institute of Human Genetics, Cologne University 0 3 1 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 4 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 0 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 3 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Inherited Neuropathy Consortium 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 1 0 0 0 2
3billion 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1

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