A: The variant NC_000019.10:g.18786036TCG[6] in gene COMP is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Multiple_epiphyseal_dysplasia|Multiple_epiphyseal_dysplasia_type_1|Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome. Molecular consequence: SO:0001821: inframe_insertion. Variant type: Microsatellite. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0002654,MONDO:MONDO:0016648,MedGen:C0026760,OMIM:PS132400,Orphanet:251|MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308|MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750. Review status: criteria provided, multiple submitters, no conflicts.