owencqueen/cgbench_data huggingface dataset:
Gene: PTEN (HGNC:9588)
Evidence Code: PS3 — Supporting
Modification Type: Disease-specific,Strength
Abnormal in vitro cellular assay or transgenic model with phenotype different from wild type that does not meet PS3.
Gene: PTEN (HGNC:9588)
Evidence Code: PM6 — Strong
Modification Type: Strength
Two probands with presumed de novo occurrence (maternity/ paternity not confirmed) with the disease and no family history.
Gene: PTEN (HGNC:9588)
Evidence Code: PM6 — Moderate
Modification Type: None
Assumed 
de novo,
 but without confirmation of paternity and maternity, in proband with the disease and no family history.
Gene: PTEN (HGNC:9588)
Evidence Code: BS2 — Supporting
Modification Type: Disease-specific,Strength
Two homozygous observations with no clinical data provided, or meets criteria for BS2 but BS1 is also applied.
Gene: PTEN (HGNC:9588)
Evidence Code: BS3 — Supporting
Modification Type: Disease-specific,Strength
In vitro or
 
in vivo
 functional study or studies showing no damaging effect on protein function but BS3 not met.
Gene: PTEN (HGNC:9588)
Evidence Code: BS4 — Supporting
Modification Type: Disease-specific,Strength
Lack of segregation in affected members of one family.