A: The variant NC_000021.9:g.45504517CCCAGGCCC[1] in gene SLC19A1 is classified as 'Benign/Likely_benign' for Knobloch_syndrome|not_specified|not_provided. Molecular consequence: SO:0001822: inframe_deletion,SO:0002073: no_sequence_alteration. Variant type: Deletion. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MedGen:CN169374|MedGen:CN517202. Review status: criteria provided, multiple submitters, no conflicts.