ClinVar Miner

Variants in gene combination AARS2, POLR1C

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Minimum submission review status: Collection method:
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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 total
18 18 123 77 59 263

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Combined oxidative phosphorylation deficiency 8 9 7 95 7 28 144
not provided 6 10 29 43 34 113
not specified 0 0 3 32 26 61
Combined oxidative phosphorylation deficiency 0 0 4 1 4 9
Leukoencephalopathy, progressive, with ovarian failure 5 0 0 0 0 5
Inborn genetic diseases 2 0 2 0 0 4
Pulmonary hypoplasia 1 1 0 0 0 2
Iron accumulation in brain 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 92 8 32 132
GeneDx 4 9 17 46 39 115
Invitae 1 0 0 23 18 42
Baylor Genetics 1 2 7 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 3 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 6 1 0 9
OMIM 7 0 0 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 3 3 0 0 0 6
Ambry Genetics 2 0 2 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 2 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Pediatric Genomics Discovery Program,Yale University 1 1 0 0 0 2
Department of Medical Genetics,Faculty of Medicine, Istanbul University 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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