Implement `PS2` and `PM6` criteria

[gromdimon]

Is your feature request related to a problem? Please describe. Implement PS2 and PM6 criteria. However, InterVar doesn't implement this criteria (manual scoring), so it can be tricky.

Describe the solution you'd like

• [ ] Find out what's this criteria are about
• [ ] Make a plan to implement (see below)

Describe alternatives you've considered N/A

Additional context

PS2

PS2 (confirmed de novo)

No automation has been implemented.

Original Definition

De novo (both maternity and paternity confirmed) in a patient with the disease and no family history

Note: Confirmation of paternity only is insufficient.
Egg donation, surrogate motherhood, errors in embryo transfer, etc. can contribute to non-maternity.

-- Richards et al. (2015); Table 4

PM6

PM6 (assumed de novo)

No automation has been implemented.

Original Definition

Assumed de novo, but without confirmation of paternity and maternity.

-- Richards et al. (2015); Table 4

Intervar

PS2 and PM6 by Manual Scoring The de novo status of the variants gives strong support for the pathogenic status for PS2 if both maternity and paternity can be confirmed; if maternity or paternity is not confirmed, then moderate evidence of pathogenicity should be applied to PM6. Because InterVar cannot directly annotate the de novo status of the user’s input variants, PS2 and PM6 are treated as user-supplied values in the second step (manual adjustment) of InterVar.

[gromdimon]

Due to data restrictions, this criteria cannot be implemented for now. -> Archiving