ACMG/ClinGen 2019 constitutional CNV criterion contract

Return the machine-readable criterion identifiers and numeric ranges used by the independently authored scoring lane. This is a scoring contract, not an automatic clinical evidence adjudicator. Dynamic section 5 criteria have an NA default and require an explicit score selected by the curator.

Usage

cnv_2019_criteria(cnv_type = c("loss", "gain"))

Arguments

cnv_type

One or both of "loss" and "gain".

Value

A data frame with allowed per-evidence ranges and aggregate caps.