| COI | conflicting interpretations of pathogenicity |
| HPO | Human Phenotype Ontology |
| NGS | next-generation sequencing |
| OMIM | Online Mendelian Inheritance in Man |
Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.