ClinVar Miner

Variants studied for Aicardi Goutieres syndrome 2

Coded as:
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
10 5 57 10 5 81

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RNASEH2B 10 5 57 10 5 81

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 2 30 7 4 50
Illumina Clinical Services Laboratory,Illumina 0 0 32 4 3 39
OMIM 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 0 2
Mendelics 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 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 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 1
Clinical Genomics Program,Stanford Medicine 1 0 0 0 0 1

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