A: The variant NC_000021.9:g.45479969G>C in gene COL18A1 is classified as 'Uncertain_significance' for Knobloch_syndrome_1|Hereditary_glaucoma,_primary_closed-angle|not_provided|Knobloch_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750|MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880|MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, multiple submitters, no conflicts.