A: The variant NC_000019.10:g.18790005C>A in gene COMP is classified as 'Uncertain_significance' for Multiple_epiphyseal_dysplasia_type_1|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome. Molecular consequence: SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308|MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750. Review status: criteria provided, single submitter.