“Of 326 variants retrieved, 217 variants in 173 genes were selected for curation. Overall, 87 (40%) variants were downgraded to benign, likely benign or variant of uncertain significance. Five variants (2%) were found to be more likely to be risk factors.”
https://www.nature.com/articles/s41598-019-57335-5
The post Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades appeared first on Center for Genomic Interpretation.
“Of 326 variants retrieved, 217 variants in 173 genes were selected for curation. Overall, 87 (40%) variants were downgraded to benign, likely benign or variant of uncertain significance. Five variants (2%) were found to be more likely to be risk factors.”
The post Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades appeared first on Center for Genomic Interpretation.