ClinVar Miner

Variants studied for STAT3-related early-onset multisystem autoimmune disease

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
13 3 4 0 0 20

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
STAT3 13 3 4 20

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 9
OMIM 7 0 0 7
Baylor Genetics 1 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 1

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