ClinVar Miner

Variants studied for Aicardi Goutieres syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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
24 8 15 2 2 48

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATRIP, ATRIP-TREX1, TREX1 23 7 15 2 2 46
​intergenic 1 0 0 0 0 1
TREX1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 14 2 2 19
GeneReviews 17 0 0 0 0 17
OMIM 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 3
Baylor Genetics 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 0 1 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 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1

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