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…