ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome 5

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 not provided total
105 33 298 393 18 19 836

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SAMHD1 101 33 268 370 9 19 770
SAMHD1, TLDC2 1 0 29 20 8 0 58
LOC130065805, SAMHD1 3 0 0 3 1 0 7
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 97 29 264 391 8 0 789
Illumina Laboratory Services, Illumina 1 1 36 4 8 0 50
GeneReviews 3 0 0 0 0 18 21
OMIM 11 0 0 0 0 0 11
Baylor Genetics 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Mendelics 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 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 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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