ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome 6

Included ClinVar conditions (2):
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
14 10 41 0 0 56

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ADAR 14 10 41 56

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
Invitae 4 0 40 44
OMIM 10 0 0 10
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 8
GeneReviews 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 2
Baylor Genetics 1 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1

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