Table 3.

Multiple Diagnostic Findings: Three CES Cases had Two Positive Diagnostic Outcomes Related to the Clinical Indication for Testing

Sex	Age, years	Molecular Dx	Inheritance of molecular Dx	Primary clinical indication
M	16.8	MYCN and TCOF1	Unknown	Neurodevelopmental disorder∗
M	6.8	F11 and VWF	Maternal	Autoimmune disease/immunodeficiency/allergies
M	0.6	AGL and TBX1	Compound het and mat	Congenital anomalies

M, male; CES, clinical exome sequencing; Dx, diagnosis; het, heterozygous; mat, maternal.

^∗Patient with a previously identified, de novo, 307-kb deletion in chromosome 22q11.21.