owencqueen/cgbench_data huggingface dataset:
Gene: FOXG1 (HGNC:3811)
Evidence Code: PVS1 — Very Strong
Modification Type: Disease-specific
Null variant in a gene where loss of function is a known mechanism of disease.




Use as defined by ClinGen SVI working group (PMID:30192042).


PVS1 is applicable for


Null variants up to p.S468 
1


A full gene deletion
Gene: FOXG1 (HGNC:3811)
Evidence Code: PVS1 — Strong
Modification Type: Disease-specific
Null variant in a gene where loss of function is a known mechanism of disease.




PVS1_Strong is applicable for any truncating variant from p.G469 to p.Q480 
2
.