Understanding your report

Splice - Altering

Clinical and genetic evidence indicate this variant has a given probability of altering pre-mRNA splicing for this gene.

Splice-Neutral

Clinical and genetic evidence indicate this variant has a given probability of maintaining the existing pattern of pre-mRNA splicing for this gene

Uncertain

Clinical and genetic evidence for pre-mRNA splicing disruption by this variant is weak and/or conflicting; and cannot be assigned a probability.