A: The variant NC_000022.11:g.20890780del in gene SNAP29 is classified as 'Uncertain_significance' for CEDNIK_syndrome. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528,Orphanet:66631. Review status: criteria provided, single submitter.