VarSome 10.3 allows for the input of additional information related to queries. To improve your ACMG classification for germline variants, a new pop up now appears when you make your search. This enables you to select the option to input either Germline or Somatic phenotypic information. This has previously only been an option for somatic variants.
Entering this data is optional and if you do not have any phenotype information leave the screen blank and click Search.
Adding optional phenotype information associated with this variant will enable us to trigger ACMG rules with greater accuracy.
For example, if you are able to input “confirmed de novo” for your variant, we will now be able to trigger the PS2 rule:
The blue question marks explain the ACMG rules that will be affected by your input:
Phenotype information will then be displayed in the classification component and used to improve ACMG classification results:
It is possible to edit the optional patient information by clicking the Sample Information link: