ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome

Included ClinVar conditions (13):
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
90 23 198 71 50 391

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 10 3 37 11 15 75
ATRIP, ATRIP-TREX1, TREX1 22 4 22 10 8 61
SAMHD1 23 2 20 9 1 51
RNASEH2A 12 2 24 13 7 49
ADAR 13 9 19 7 7 44
RNASEH2B 7 1 24 6 4 37
KAT5, RNASEH2C 0 0 27 4 3 34
RNASEH2C 2 2 20 5 3 26
SAMHD1, TLDC2 0 0 5 6 2 13
TREX1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 3 81 25 42 162
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
Fulgent Genetics 4 2 6 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 9
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 5 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 1 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 4 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 1 4
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 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
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 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

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