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).
Case U - Presented on Overview Webinar (Jan 16, 2020)
This case involves case-level data, and illustrates how to incorporate ClinGen Dosage Sensitivity scores other than 3 (sufficient evidence for dosage sensitivity) or 40 (dosage sensitivity unlikely).
Case V - Presented on Dosage Webinar (Jan 23, 2020)
arr[GRCh37] Xp22.11(23223505_23660309)x1 mat
This case involves overlap with a known haploinsufficient gene on the X chromosome in a female.
Case W - Presented on Case Data Webinar (January 30, 2020)
This case illustrates how to score case-level data, including segregation data, and points to consider before overriding category maximums.
Case X - Presented on Case-Control Webinar (February 13, 2020)
This case illustrates how to assess case-control data.
Case Y - Presented on gnomAD SV Webinar (February 20, 2020)
arr[GRCh37] 4q13.2(69373811-69491113)x1 pat
This case illustrates how to use population data.
Case Z - Presented on the DGV Webinar (February 27, 2020)
This case illustrates how to use population data, as well as points to consider when deciding if a 1% population allele frequency is too high for the particular phenotype under investigation.