Table 4.

Summary of the classification criteria used by Cornelis at al. to decide the genotype severity [148].

Class	Description	Pathogenicity
1	Truncating variant	Pathogenic
2	Non-truncating but enriched in ABCA4-LOVD data set compared to nFE ExAc control group	Likely pathogenic
3	Non-truncating variant that is more frequent in the ABCA4-LOVD dataset compared to ExAc control group but not significantly enriched	Uncertain significance
4	Variant had higher frequency in nFE ExAc control group than ABCA4-LOVD data set	Likely benign
5	Variant has a frequency > 0.005 in nFE ExAC population and not a known mild ABCA4 variant	Benign