| Level 1 |
Information regarding pathogenic or likely pathogenic variants in genes identified by the American College of Medical Genetics[19]. These genes are ‘actionable’ i.e., there are potential preventive, treatment, or surveillance modalities available. Half of these genes are related to CPS (primary findings); the others are related to cardiac disease, metabolic disorders, or familial hypercholesterolemia (secondary findings). |
| Level 2 |
In addition to the genes listed at level 1, information regarding pathogenic or likely pathogenic variants in other known or putative CPS genes (from the list of 314 CPS genes found in S 1A Data). These were considered primary findings. However, if there was no known correlation between the clinical phenotype and the gene in question, the variant was considered a secondary finding. |
| Level 3 |
In addition to the genes listed at levels 1 and 2, families would also receive information regarding pathogenic or likely pathogenic variants in other genes not related to CPS (not presented in this paper). These were considered secondary findings. |
