ClinVar Miner

Variants studied for Infantile myofibromatosis 1

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
3 1 0 1 0 2 6

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic likely benign not provided total
PDGFRB 3 1 1 1 5
NOTCH3 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic likely benign not provided total
OMIM 2 0 0 0 2
Center for Applied Genomics,Children's Hospital of Philadelphia 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 2
Mendelics 0 0 1 0 1
Hunter Genetics General Clinical Genetics Service,Hunter Genetics 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 1

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