Q: I have a question: the algorithmic filter for compound heterozygous and homozygous variants seems very strict to me only allowing variants with a strong pathogenic ACMG criterion. Is there a way to run it less strict, not to miss all the missense variants?
A: It isn't possible at the moment but it is trivial to make it possible.However, the problem is that the ACMG classification criteria results in thousands of variants of unknown function (VAFs), so if we don't restrict these to "strong" pathogenic only, the results are so many that the filter is next to useless.
Also, I don't see why missense variants are relevant. The filter will return:
So allowing all variants classified as uncertain significance instead of only those for which at least one of the strong pathogenic ACMG rules has fired will make no change to what missense variants are returned.