A: The variant NC_000019.10:g.18787505TCG[2] in gene COMP is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia_type_1. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MedGen:C3661900|MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750|MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308. Review status: criteria provided, multiple submitters, no conflicts.