ClinVar Miner

Variants in gene ADAR

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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 protective not provided total
65 35 794 492 71 1 6 1402

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 40 7 673 457 18 0 1 1193
not provided 13 15 71 42 33 0 3 167
Symmetrical dyschromatosis of extremities 9 4 75 6 44 0 1 137
Aicardi-Goutieres syndrome 6 11 13 45 10 13 0 2 86
Inborn genetic diseases 5 0 62 6 0 0 0 73
ADAR-related disorder 2 2 7 17 0 0 0 27
not specified 0 0 3 5 12 0 0 20
ADAR-related type 1 interferonopathy 2 0 0 0 0 0 0 2
Aicardi Goutieres syndrome 0 1 0 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 1 0 1
Microcephaly 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 5 672 458 18 0 0 1193
Illumina Laboratory Services, Illumina 1 0 73 6 41 0 0 121
GeneDx 7 8 39 13 21 0 0 88
Ambry Genetics 5 0 62 6 0 0 0 73
Genome-Nilou Lab 1 3 40 10 13 0 0 67
CeGaT Center for Human Genetics Tuebingen 5 3 17 22 1 0 0 48
PreventionGenetics, part of Exact Sciences 1 2 7 17 3 0 0 30
Breakthrough Genomics, Breakthrough Genomics 0 0 2 8 19 0 0 29
OMIM 13 0 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 1 1 7 2 1 0 0 12
Revvity Omics, Revvity 1 2 8 0 0 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 10 0 0 11
Eurofins Ntd Llc (ga) 3 0 2 0 4 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 4 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 0 0 0 6
Baylor Genetics 3 0 3 0 0 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 5 0 0 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 0 3
Mendelics 2 1 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
3billion 2 1 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 1 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 0 1

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