Table 1 |.

Dual diagnoses and revised clinical diagnoses based on molecular findings

ID	Initial phenotype	Expected genetic diagnosis	Identified genetic
CVA28	Macrocephaly, autism spectrum disorder, hamartoma	PTEN	PIK3CA (somatic), ANKRD11 (KBG syndrome)
CVA15	Venous malformation, supravalvuar aortic stenosis, pulmonic stenosis, hypertrophic cardiomyopathy	TEK	TEK (somatic), RIT1 (Noonan syndrome)
CVA25	NF1 and venous malformation	NF1 (with NF1-related vascular malformation)	NF1 (germline), PIK3CA (somatic)
CVA53	Venous malformation by physical exam imaging, lymphatic malformation by pathology	PIK3CA	TEK (somatic)
CVA227	Multiple cutaneous and mucosal venous malformations	TEK (germline)	GLMN (germline)
CVA172	CMTC, GVM on pathology	GLMN	PDGFRB (somatic)
CVA19	FAVA	PIK3CA	TEK (somatic)
CVA103	FAVA	PIK3CA	PTEN (somatic)

The first three cases demonstrate the utility of deep exome sequencing to identify a somatic cause, as well as the germline cause for the additional medical issues.