Management recommendations for clinically significant CNVs and recommendation according to the level of evidence.

Abbreviations: MCA = Multiple Congenital Anomalies; DD = Developmental Delay; ASD = Autism Spectrum Disorders; Dys = Dysmorphism; UCS = Uncertain Clinical Significance.
Abbreviations: S = Surveillance; R =  specialist Referral/assessment; D = Diagnostic testing; P = medical/surgical Procedure; M = Medication administration; L = Lifestyle recommendation; O = Other interventions.
* = pathogenic CNVs, ∧ = likely pathogenic CNVs.
N = not tested; Mat  =  maternal inheritance; Pat  =  paternal inheritance.
Management recommendations for clinically significant CNVs and recommendation according to the level of evidence.