A: The variant NC_000020.11:g.17494076_17494077del in gene BFSP1 is classified as 'Benign' for Cataract_33|Congenital_ocular_coloboma. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012665,MedGen:C3808107,OMIM:611391,Orphanet:91492|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194. Review status: criteria provided, single submitter.