ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome

Included ClinVar conditions (15):
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 total
121 39 283 52 16 475

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IFIH1 30 6 60 2 2 98
SAMHD1 30 5 32 9 1 72
ATRIP, ATRIP-TREX1, TREX1 23 7 28 9 4 68
ADAR 14 10 41 1 0 56
RNASEH2A 14 3 31 10 5 53
RNASEH2B 8 5 35 6 0 51
KAT5, RNASEH2C 0 0 27 4 3 34
RNASEH2C 2 2 23 5 0 29
SAMHD1, TLDC2 0 0 6 6 1 13
TREX1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 7 165 1 7 208
Illumina Clinical Services Laboratory,Illumina 2 1 99 45 8 155
GeneReviews 51 0 0 0 0 51
OMIM 44 0 0 0 0 44
Laboratory of Neurogenetics and Neuroinflammation,Institut Imagine 19 0 0 0 0 19
Fulgent Genetics,Fulgent Genetics 4 2 6 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 0 0 11
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 6 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 1 6
Baylor Genetics 4 1 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 4 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 4 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 1 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 1 4
Mendelics 1 2 0 0 1 4
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 1 0 0 0 3
Institute of Human Genetics,Cologne University 0 1 0 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 1
Division of Neonatology,National Center for Child Health and Development 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 1

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