TABLE 1.

Initial confidence score assignment of variants based on ClinVar annotations.

Criteria	Confidence score
	0	1	2
3′ (or 5′) UTR exonic variant based on ClinVar preferred transcript	✓	✓	✓
Not in a coding sequence exon in another transcript or a splicing variant a in another transcript	‐	✓	✓
Not an intronic variant in another transcript or a 5′ UTR (or 3′ UTR) variant in another transcript	‐	‐	✓

UTR, untranslated region.

^a Defined as an intronic variant within 8 bp of the intron/exon boundary.