CNV Technical Standards Web Series

A multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs).

Special Considerations in the Evaluation of Intragenic CNVs

Special Considerations in the Evaluation of Intragenic CNVs

Daniel Pineda-Alvaraz
Invitae

Dr. Pineda-Alvaraz will discuss the evaluation of intragenic deletions and duplications, following recommendations put forth by Abou Tayoun et al. and the ClinGen Sequence Variant Interpretation working group (PMID:30192042).  Scoring considerations when the CNV overlaps the 5’ or 3’ end of a known haploinsufficient gene will also be reviewed.