Fix for issue #571. This is a bug-fix release to prevent erroneous assignment of PVS1 to recessive-compatible variants in LOF-tolerant genes.
We strongly recommend updating to this release if you rely on the ACMG assignments from Exomiser.
Fix for issue #571. This is a bug-fix release to prevent erroneous assignment of PVS1 to recessive-compatible variants in LOF-tolerant genes.
We strongly recommend updating to this release if you rely on the ACMG assignments from Exomiser.