The Calculator uses ClinGen Allele Registry that regularly updated to include the latest alleles from ClinVar and other sources. It is likely that the allele that you want to use is not available in the registry. Please use the registration functionality to register a new allele. A use case showing how to register a new allele is here.
Alleles with Uncertain Significance due to conflicting evidence can be asserted as Benign, Likely benign, Pathogenic or Likely pathogenic at user's discretion, upon careful evaluation of evidence. In such cases the difference is acceptable. We would like to hear from you if you encounter other scenarios.
Although the Pathogenicity Calculator was developed for making conclusions based on ACMG/AMP guidelines, it can be customized to handle a variety of semi-quantitative guidelines that are similar to ACMG/AMP guidelines. Please let us know if you would like to use custom guidelines (firstname.lastname@example.org).
All the services working behind the Pathogenicity Calculator are accessible via Application Programming Interfaces (APIs), making it possible to integrate with existing variant curation and evaluation systems. We will soon provide a thorough documentation of these APIs. If you would like to use our services using APIs, you may also let us know (email@example.com).