We have a need to modify the rank model category allele frequency for certain genes that have patogenic variants associated to them even though they are quite frequent in the population. Just like we relax the inheritance models.
For instance PRRT2 in case 16139 (16_29825015_G_GC) that has a EXAC AF=0.0049, but is still associated with disease. Or Rosa's case.
This should only be done on a set of genes which displays this reduced penetrance to prevent overloading the variant list with too common variants in general.
We have a need to modify the rank model category allele frequency for certain genes that have patogenic variants associated to them even though they are quite frequent in the population. Just like we relax the inheritance models.
For instance PRRT2 in case 16139 (16_29825015_G_GC) that has a EXAC AF=0.0049, but is still associated with disease. Or Rosa's case.
This should only be done on a set of genes which displays this reduced penetrance to prevent overloading the variant list with too common variants in general.