These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.
[x] PS1 - "Same amino acid change as a previously established pathogenic variant regardless of nucleotide change" - Needs AA and position info from ClinVar.
[x] PM5 - "Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before" - Needs AA and position info from ClinVar.
[ ] PP2 - "Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease" - Requires gnomAD gene constraint z-score and ClinVar gene metrics for numbers of missense/nonsense variants in P/LP, B/LB categories
[ ] BP1 - "Missense variant in a gene for which primarily truncating variants are known to cause disease" - ClinVar required
julesjacobsen
commented
11 months ago
These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.