Classification is primarily based on clinical actionability, which is divided into 4 categories.
Actionable Variants Damaging : An alteration with an effect on proteinfunction (gain, loss or altered) based on several publications by differentresearch groups which include some clinical information
Probably Damaging : An alteration with an effect on proteinfunction based on only one publication and perhaps only using an in vitromodel and for which no clinical information is available
Unknown : Analteration with no demonstrated effect on protein function
- Variants of Uncertain Significance (VUS) An alteration with no demonstratedeffect on protein function
- MedicallyActionable Incidental Findings An alteration that might be associatedwith a genetic disease or increase susceptibility with some cancer.
- Probably Polymorphism An alteration characterized as polymorphism with a minor allele frequency (MAF) ≥1% and not associated with any genetic disease.
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