A: The variant NC_000021.9:g.44330328T>C in gene CFAP410 is classified as 'Pathogenic' for Leber_congenital_amaurosis. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65. Review status: no assertion criteria provided.