ClinVar Miner

Variants in gene combination AARS2, POLR1C

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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
32 36 281 202 84 2 564

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 15 158 174 65 1 407
Combined oxidative phosphorylation defect type 8 13 8 97 7 34 1 157
Inborn genetic diseases 2 3 59 8 0 0 72
not specified 0 0 5 24 25 0 54
Leukoencephalopathy, progressive, with ovarian failure 8 7 5 0 9 0 29
AARS2-related condition 0 1 1 13 3 0 18
Combined oxidative phosphorylation deficiency 0 0 4 1 4 0 9
AARS2-Related Disorders 1 2 0 0 0 0 3
Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure 0 0 0 3 0 0 3
Pulmonary hypoplasia 1 1 0 0 0 0 2
See cases 0 0 2 0 0 0 2
Generalized muscle weakness 1 0 0 0 0 0 1
Iron accumulation in brain 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 1 112 129 39 0 291
GeneDx 6 10 44 68 57 0 185
Illumina Laboratory Services, Illumina 0 0 92 8 32 0 132
Ambry Genetics 2 3 59 8 0 0 72
CeGaT Center for Human Genetics Tuebingen 3 2 7 8 1 0 21
PreventionGenetics, part of Exact Sciences 0 1 1 13 3 0 18
Baylor Genetics 1 2 9 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 3 3 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
OMIM 7 0 0 0 0 0 7
Revvity Omics, Revvity 2 0 5 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 2 1 0 0 6
Mendelics 4 1 0 0 1 0 6
Eurofins Ntd Llc (ga) 2 0 4 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 2 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 1 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Pediatric Genomics Discovery Program, Yale University 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 2 0 0 0 0 2
Neurology Laboratory, National Cheng Kung University Hospital 0 2 0 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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