ClinVar Miner

Variants in gene combination ATRIP, ATRIP-TREX1, TREX1

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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 risk factor not provided total
57 54 352 152 18 1 14 573

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 43 5 305 132 11 0 0 496
not provided 16 23 52 17 6 0 0 104
Aicardi-Goutieres syndrome 1 17 18 23 2 2 0 14 64
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2 5 12 10 9 0 0 38
TREX1-related disorder 7 3 17 7 0 0 0 34
not specified 0 0 18 6 8 0 0 30
Inborn genetic diseases 1 0 23 3 0 0 0 27
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2 13 6 1 0 0 0 22
Aicardi Goutieres syndrome 1 0 5 4 4 0 0 14
Retinal dystrophy 0 1 3 0 0 0 0 4
Chilblain lupus 1 0 3 0 0 0 0 0 3
See cases 1 0 2 0 0 0 0 3
Aicardi-Goutieres syndrome 1, autosomal dominant 2 0 0 0 0 0 0 2
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Inborn genetic diseases 0 0 0 2 0 0 0 2
Chilblain lupus 2 0 0 0 0 0 0 2
Systemic lupus erythematosus 1 1 0 0 0 0 0 2
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0 1 0 0 0 0 0 1
Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0 0 0 1 0 0 0 1
Aicardi-Goutieres syndrome 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0 1 0 0 0 0 0 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Vascular dementia 0 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 0 1
Systemic lupus erythematosus, susceptibility to 0 0 0 0 0 1 0 1
Thrombotic microangiopathy 0 1 0 0 0 0 0 1
Vascular dementia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 5 305 133 11 0 0 496
GeneDx 8 15 22 2 3 0 0 50
PreventionGenetics, part of Exact Sciences 6 2 17 7 2 0 0 34
Illumina Laboratory Services, Illumina 1 1 18 10 9 0 0 32
CeGaT Center for Human Genetics Tuebingen 4 4 15 8 0 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 18 5 0 0 0 28
Ambry Genetics 1 0 23 3 0 0 0 27
Fulgent Genetics, Fulgent Genetics 2 13 5 0 0 0 0 20
GeneReviews 3 0 0 0 0 0 14 17
Revvity Omics, Revvity 3 4 9 0 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 4 4 0 0 11
Breakthrough Genomics, Breakthrough Genomics 0 1 2 2 6 0 0 11
OMIM 10 0 0 0 0 1 0 10
Athena Diagnostics 1 0 6 1 2 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 3 0 0 0 0 8
Baylor Genetics 3 1 3 0 0 0 0 7
Clinical Genetics, Academic Medical Center 0 1 0 2 3 0 0 6
Eurofins Ntd Llc (ga) 3 0 2 0 1 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 1 4 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 3 0 0 5
Institute of Neurology, Charite University of Medicine 0 2 0 3 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 0 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 3 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 0 3
3billion 0 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 1 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 2
Mendelics 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 0 1

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