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.
Summary of the results of variant interpretation and classification according to the ‘Amsterdam criteria’ and ACMG criteria. *One variant was identified in 2 index cases; ESP exome sequencing project, 1000G 1000 genomes project, ExAC exome aggregation consortium; duplicate variants indicates the total number any particular variant was observed in more than one patient; UTR untranslated region, ins insertion, del deletion
