Genetics in Medicine,
A new technical standard for the interpretation and reporting of constitutional CNVs ACMG - American College of Medical…
A new technical standard for the interpretation and reporting of constitutional CNVs ACMG - American College of Medical…
“It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be…
CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for…
New points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in technical…
Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical…
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus…
https://www.nature.com/articles/s41436-019-0686-8
Explicit new guidance for interpreting #CNVs occurring within individual genes is provided in new technical standards from ACMG
Explicit new guidance for interpreting #CNVs occurring within individual genes is provided in new technical standards from ACMG