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 total
36 8 73 19 12 142

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SAMHD1 36 8 58 17 5 118
SAMHD1, TLDC2 0 0 15 2 7 24

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 4 38 17 4 82
Illumina Clinical Services Laboratory,Illumina 0 1 36 4 8 49
GeneReviews 21 0 0 0 0 21
OMIM 11 0 0 0 0 11
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 1 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 2
Mendelics 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1

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