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These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.
PS1 - "Same amino acid change as a previously established pathogenic variant regardless of nucleotide change" - Needs AA and position info from ClinVar.
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
The text was updated successfully, but these errors were encountered:
These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.
The text was updated successfully, but these errors were encountered: