Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder.

A nine-month-old male was referred with short stature, tortuosity in multiple arteries, pulmonary stenosis, and multiple fractures. Trio exome sequencing (ES) revealed a c.275_277delinsTT, p.