fixes in criteria for inclusion and annotation#49
Merged
Redmar-van-den-Berg merged 10 commits intoLUMC:mainfrom Feb 10, 2026
Merged
fixes in criteria for inclusion and annotation#49Redmar-van-den-Berg merged 10 commits intoLUMC:mainfrom
Redmar-van-den-Berg merged 10 commits intoLUMC:mainfrom
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For each gene (where appropriate), ensure inclusion of which variants to report, and what to do with other variants; Ensure that criteria are ordered by priority (pathogenic, likely pathogenic, possible pathogenic, likely benign) where possible
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protein_altering_variantin annotation criteria, this VEP consequence is given to some delins variantsdiscardtolikely benignfor better understandabilty